Property Summary

NCBI Gene PubMed Count 856
PubMed Score 2142.67
PubTator Score 2117.84

Knowledge Summary

Patent

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TINX Plot

  Disease (7)

Disease Target Count P-value
ovarian cancer 8491 2.5e-10
posterior fossa group A ependymoma 1511 7.9e-10
malignant mesothelioma 3163 2.5e-06
tuberculosis 1563 3.8e-05
psoriasis 6685 2.0e-04
osteosarcoma 7933 2.0e-04
Disease Target Count Z-score Confidence
Hemochromatosis 55 9.048 4.0
Porphyria 9 0.0 5.0
X-linked sideroblastic anemia 4 0.0 5.0

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -2.500 2.5e-06
psoriasis 1.100 2.0e-04
osteosarcoma 1.981 2.0e-04
posterior fossa group A ependymoma 1.300 7.9e-10
tuberculosis 1.100 3.8e-05
ovarian cancer 1.100 2.5e-10

 CSPA Cell Line (3)

Gene RIF (968)

PMID Text
26852655 Total iron binding capacity was strongly associated with variants in and near the TF gene, and with variants in HFE gene in premenopausal women of European descent.
26725908 The HFE- and non-HFE hemochromatosis syndromes represent the paradigms of genetic iron overload.
26535689 this analysis provided strong evidence that the HFE H63D polymorphism may play a critical role in the increased aggressiveness of hepatocellular carcinoma and pancreatic cancer.
26501199 study provides evidence that the complex allele HFE-c.[187C>G;340+4T>C] has a role, as genetic predisposition factor, on iron overload in the Sao Miguel population
26456104 this review describes the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload. [review]
26365338 High iron overload is associated with HFE p.Cys282Tyr homozygotes than in compound heterozygotes.
26281176 ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE
26174855 Its polymorphism does not influence ALS phenotype and survival.
26174684 haplotype analysis of common HFE mutations in the Portuguese population, is reported.
26107216 H63D and C282Y polymorphisms are associated with an increased risk of overall cancer.
26054392 Our results indicate parallel adaptation of HFE gene in Europeans and Asians with different genetic variants. Moreover, natural selection on HFE may have contributed to elevated Fe absorption in Asians.
25981872 results showed placental tissue, umbilical cord and maternal blood lead levels of mothers with HD+DD genotypes were significantly higher than those with HH genotype; study indicated that mothers with H63D gene variants have higher lead levels of their newborn's placentas and umbilical cord bloods
25963508 Study reveals relationship between HFE genetic polymorphisms and basic lead toxicological parameters in occupationally exposed workers.
25955080 the HFE variant rs9366637 showed a statistically significant negative correlation with gestational age for childhood acute lymphoblastic leukemia
25880808 The result support the notion that HFE contributes, at least in part, to the generation of low peripheral blood CD8+ T lymphocytes in hemochromatosis.
25864213 The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.
25863172 no significant associations were found for any genetic model for the H63D polymorphism, suggesting that the H63D polymorphism might not be associated with Parkinson disease. [meta-analysis]
25854174 We conclude that iron biomarkers and being male, but not HFE mutations, increased the risk for CRC and polyps in this prospective setting
25850353 results indicate the association between the C282Y/Q283P compound heterozygous genotype in trans and the development of iron overload; this is the second case report on the HFE Q283P mutation in hemochromtosis
25700349 HFE down-regulation was mediated by both CD4 and CD8 T lymphocytes, through production of soluble mediators, namely TNF and IFN-gamma.
25687342 HFE gene expression level of iron deficiency anemia patients was significantly higher than other groups.
25654085 The frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE hereditary hemochromatosis to other genotypes in liver disease patients are examined.
25634189 HFE genetic variant H63D was associated with essential hypertension in Finnish subjects from the TAMRISK cohort confirming a previous GWAS study.
25504993 iron dysregulation associated with HFE allelic variants may play an important role in increasing susceptibility to environmental exposures, leading to recurring injury and fibrosis in idiopathic pulmonary fibrosis
25491948 HFE polymorphisms are associated with brain tumors.
25486930 Hereditary hypotransferrinemia caused by novel transferrin mutations can lead to elevated transferrin saturation and, when associated with HFE or HAMP mutations, to iron overload.
25442240 Metabolic alterations and HFE gene mutations are involved in the presence of atherogenic lipoprotein modifications in primary iron overload.
25314357 A new tool predicts the probability of being a C282Y homozygote of the HFE gene from serum ferritin and transferrin saturation value.
25311314 No documented iron overload was observed for HFE simple heterozygotes for either C282Y or H63D
25293352 This study found that HFE and GSTP1 genotypes modified the association between lead biomarkers and ALS. Contrasting modification by the HFE polymorphisms H63D and C282Y
25287020 Infants born to mothers with the HFE C282Y gene missense variant but not the TF P570S or HFE H63D gene missense variants had lower umbilical cord blood lead levels relative to those born to women who were wild-type.
25284364 Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
25283820 Findings indicate hemochromatosis protein (H63D HFE) modifies transgenic mouse amyotrophic lateral sclerosis (ALS) pathophysiology via pathways involving oxidative stress, gliosis and disruption of cellular functions.
25231511 The single-nucleotide polymorphism in HFE was significantly associated with Hypertension in an Algerian population sample.
25085015 Our results replicated previous HFE risk associations with childhood acute lymphoblastic leukemia in a United States population and demonstrated novel associations for Iron regulatory genes SNPs.
25015054 The hepcidin promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more common in the HFE_H63D patients with serum ferritin >300 mug/L than in those with normal serum ferritin levels or controls.
25015053 Data estimated the prevalence of hemochromatosis protein (HFE)-related hemochromatosis risk mutation C282Yto be 2.7 % and H63D 14.2 % .
24988074 The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant.
24920245 we observed that patient HFE mRNA was expressed much less than calibrator, suggesting that the mutated HFE protein cannot play its role in iron metabolism regulation, resulting in proband BIO.
24904118 results provide evidence that HFE induces hepcidin expression via the BMP pathway: HFE interacts with ALK3 to stabilize ALK3 protein and increase ALK3 expression at the cell surface.
24798971 Polymorphisms in the HFE gene highly linked with iron stores were associated with an increased PC risk in Chinese.
24785111 MTHFR and HFE, but not preproghrelin and LBP, polymorphisms as risk factors for all-cause end-stage renal disease development.
24729993 H63D homozygosity was associated with an elevated mean ferritin level, but only 6.7% had documented iron overload at follow-up. The penetrance of the H63D mutation appeared to be low.
24643698 a new role for HFEWT in altering CD8(+) T-lymphocyte reactivity, which could modulate antigen immunogenicity.
24604426 No associations were found for any genetic model for the H63D polymorphism. The C282Y polymorphism in HFE could be a potential protective factor for ALS in Caucasians. However, the H63D polymorphism does not appear to be associated with ALS.
24556216 Results demonstrate that PCSK7 variation is a strong host risk factor of liver cirrhosis in hereditary hemochromatosis patients homozygous for HFE C282Y.
24533143 the C282Y-HFE gene variant has a role in affecting cholesterol metabolism in human neuroblastoma cells
24439478 Alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
24433479 There were no differences in the frequency of HFE-845 G>A and HFE-187G>C between diabetes mellitus patients with and without nephropathies.
24401005 HFE gene mutation carriers were more prevalent among patients with knee osteoarthritis than among healthy controls.
24390816 the association between p.C282Y heterozygosity and an earlier age at Friedreich ataxia onset relates to exacerbation of the already dysregulated iron metabolism
24339903 H63D is a discrete genetic susceptibility factor whose expression is most visible in association with other co-factors
24331117 It may be worthwhile to study the mutated HFE protein regarding myocardial growth/hypertrophy.
24184271 Thus, PARP1 binding to the inverted repeat sequence on the HFE promoter may serve as a novel iron sensing mechanism as increased iron level can trigger PARP1 cleavage and relief of HFE transcriptional repression.
24087894 The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
24081379 Mutations in HFE are linked to risk factors for dementia development.
24068123 Alcoholism, hepatitis C and estrogen intake are precipitating factors, prevalent in porphyria cutanea tarda, but HH alone may also contribute to the onset of PCT, which makes research of HFE mutations or HH phenotypes in these patients important .
23968943 The present meta analysis demonstrated that TF gene rs1049296 polymorphism is a genetic determinant of Alzheimer disease.
23953397 A novel C282Y/R226G compound heterozygous state in HFE hemochromatosis results in a less severe phenotype.
23862168 Iron loading HFE mutations are unlikely to be the most common cause of an elevated serum ferritin level in patients with mild hyperferritinemia
23813494 The results of this study demonistrated that the H63D polymorphism was associated with decreased soluble SOD1 expression, and SOD1 protein expression levels were negatively correlated with total disease duration when all genotypes were combined.
23794717 Investigated and foung SNPs HFE rs1800562 and TMPRSS6 rs855791 are the main determinants of HFE and TMPRSS6 related variation in serum iron, ferritin, transferrin saturation, and total iron binding capacity.
23794343 The homozygote C282Y mutation prevalence for hemochromatosis in Anatolia is 0.043% (1/2304), the heterozygote C282Y mutation prevalence is 0.043% (1/2304) and the heterozygote H63D mutation prevalence is 0.043% (1/2304).
23793422 study demonstrates for the first time that there was an association between HFE gene H63D gene homozygous mutations and cardiovascular disease in hemodialysis patients
23792061 A significant association exists between the HFE gene rs1799945 mutation and coronary heart disease. [Meta-analysis]
23681799 The HFE C282Y polymorphism rather than H63D might be associated with increased risk of breast cancer. [Meta-analysis]
23678366 Myristoylation of HIV-1 Nef at position 2 and the PxxP proline-rich motif of Nef at positions 62-65 are required for Nef-induced downregulation of HFE; amino acid residue Y282 in HFE is involved in the downregulation by Nef
23657305 Alcoholic liver disease does not present with a differential profile of HFE mutations but the presence of at least one HFE mutation increases the risk of having excessive liver iron stores but has no detectable effect on liver disease activity or severity
23553028 The current meta-analysis supported the positive association of HFE gene C282Y variant with colorectal cancer.
23512844 Elevated iron phenotype, but not HFE genotype, was associated with shortened telomeres.
23468552 We found the minor allele of rs1800562 was associated with poorer word recall scores [pooled beta on Z-score for carriers vs. noncarriers...].
23413885 Participants who lacked a HFE C282Y variant (CC) exhibited an adverse association between black carbon and total cognition z-score, while there was no association in participants with at least one variant genotype (CY or YY).
23389292 results suggest that H63D variant in HFE gene seems to be associated with gastric cancer risk of the non-cardia region and intestinal type, possibly due to its association with iron overload although a role for other mechanisms cannot be entirely ruled out
23340149 In Maastricht we found a C282Y allele frequency in HFE of 0.086, 0.055 in Amsterdam, 0.054 in Doetinchem. C282Y and H63D heterozygosity did not predict fatal CVD in men or women, whereas homozygosity for the H63D mutation increased fatal CVD in women.
23289212 carriage of S65C polymorphism for the HFE gene , does not influence on predisposition to the longevity.
23281741 HFE C282Y homozygosity is associated with increased risk of colorectal cancer and hepatocellular cancer in men.
23188073 This study reveals a high prevalence of fibromyalgia syndrome (43%) among subjects with HFE-related hemochromatosis
23178241 The frequencies of the HFE SNPs in ALL pediatric patients were lower than those found in controls, whereas the HLA-A*24 allele was significantly overrepresented in the patients group. No HFE-HLA-A associations were found to modulate the ALL risk.
23154866 A C282Y mutation in the HFE gene was seen in several members of an Indian family with hereditary hemochromatosis. This is the first report of this mutation in the Indian population.
23063643 After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to amyotrophic lateral sclerosis, age at disease onset, or survival.
23018356 The genetic study for HFE gene mutation was examined for all of the patients.
22942096 haplotypes associated with the H63D mutation in the HFE gene in the north Indian population evidence toward the ancestral origin of H63D.
22908207 Meta-analysis showed an increased odds ratio for type 2 diabetes mellitus in persons carrying a D allele of the hemochromatosis gene at the H63D polymorphism compared with those with an H allele.
22890139 Mutations in the HFE gene is associated with hemochromatosis.
22842326 The present study showed a low prevalence of HFE mutations in the local Tamilian population and supports the very low prevalence of HFE-related hemochromatosis in the Indian population.
22728873 The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.
22720276 These results do not support recommending dietary heme or nonheme iron restrictions for HFEC282Y homozygotes diagnosed through screening in North America.
22624560 Immunoprecipitation assays revealed a decreased association of HFE_E277K and HFE_V295A with both beta2-microglobulin and transferrin receptor.
22611049 The presence of HFE C282Y mutations in patients with nonalcoholic fatty liver disease is associated with greater hepatocellular iron deposition and decreased serum hepcidin levels.
22565179 Molecular diagnosis of HFE mutations in routine laboratories.
22530027 NMD and alternative polyadenylation may act coordinately to control HFE mRNA levels, possibly varying its protein expression according to the physiological cellular requirements.
22504868 Our data suggest that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction.
22481680 Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/ml
22425014 Analysis of a large cohort of amyotrophic lateral sclerosis (ALS) patients indicates that the His63Asp polymorphism of HFE is not associated with sporadic ALS in the French population.
22362121 The multifactorial iron-overloaded state in HSCT recipients might affect the phenotypic expression of HFE mutations and alter the severity of clinical presentation.
22354660 C282Y is found in the highest frequency of all Central European countries in the HFE gene variants of Roma/Gypsies, while the frequency of H63D mutation is lower than any reported in Europe so far. S65C mutation is not present in the cohort.
22297603 increased iron indices are common in chronic liver diseases but HFE mutations do not play an important role in the pathogenesis of chronic hepatitis B, chronic hepatitis C, and alcoholic liver disease
22232660 study found that partially overlapping additive genetic factors influenced transferrin levels and brain microstructure; a commonly carried polymorphism (H63D at rs1799945) in the hemochromatotic HFE gene was associated with white matter fiber integrity
22209421 HFE C282Y homozygosity was associated with an increased risk of both single and bilateral total hip replacement for osteoarthritis.
22196777 in cardiac asymptomatic subjects with HH with C282Y homozygosity, known to be the most common HFE gene mutation to cause HH.
22183944 The frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity, were evaluated.
22183642 Patients with hyperferritinemia are more likely to be HFE (High Iron) 282 Cys --> Tyr (C282Y) homozygotes if they have normal liver transaminase activities.
22145371 High frequency of the CCA haplotype and functional importance of IVS4(-44)t/c polymorphism was demonstrated.Patients presenting with iron overload syndrome are shown to have low frequency of IVS4(-44)c.
22122796 Results suggest that in the Balearic population the beta-thalassemia trait does not tend to be aggravated by the co-inheritance of HFE mutations.
22118647 Although HFE mutations produce initially elevated haemoglobin & iron stores, there is no effect on their rate of decline when individuals are subjected to haemoglobin & iron loss with repeated blood donation.
22098612 Contrary to previous reports of HFE gene polymorphisms in Wilson disease patients, in our cohort the allele frequencies were in line with frequencies obtained for general population.
22098610 The H63D mutation in HFE gene has little impact on the clinical characteristics of chronic hepatitis C
22048270 The HFE H63D polymorphism is more abundant than C282Y among both autism and control samples, however no significant association of p.H63D nor p.C282Y polymorphism and autism was revealed
22012716 In the case of chronic hepatitis B, the carriage of the H63D variant represents a risk factor of evolution towards a more active disease.
21947086 Results describe the prevalence of C282Y (c.845 G>A), H63D (c.187 C>G), and S65C (c.193A>T) alleles of HFE gene in the Lithuanian population.
21932715 hemochromatosis-associated mutations in Hispanic patients with iron overload; predominance of H63D mutations in this population differs considerably from other studied populations with iron overload in which C282Y is the most common mutation
21925577 frequency of HFE mutant alleles (C282Y, H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma (HCC)patients; results suggest carriers of D allele of H63D mutation were more likely to develop HCC
21822737 The frequency of primary iron overload, and the HFE gene mutaion (C282Y) are both rare in Indian patients and explain why hemochromatosis is a rare cause of liver cirrhosis in India.
21796974 Our study has shown that the HFEgene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls.
21785125 HFE rs1800562 C282Y variant exerts a direct pleiotropic effect on the iron parameters, in part independent of hepcidin.
21736562 HFE C282Y, H63D and S65C mutations are associated with type 1 haemochromatosis.
21701828 Meta-analysis supports HFE H63D polymorphism playing a protective role for Alzheimer's disease risk.
21701160 elucidate the possible role of androgen levels and PCOS as modifiers of HFE hemochromatosis phenotypes
21696736 genetic variations in the HFE gene, but not plasma ferritin may have a role in coronary heart disease in Chinese
21674831 evidence of a gradual decline in the prevalence of the 845A allele in Eastern Europe from the northwest to the southeast.
21669570 Iron disorders were detected in Polish patients with liver cirrhosis frequently but without significant association with HFE gene mutations.
21643746 HFE-C282Y and H63D mutations are not high-risk genetic variants for schizophrenia/schizoaffective disorder in a Croatian population, nor do they impact on age at onset of the first psychotic symptoms.
21625954 Our data suggests that the polymorphisms FGFR4, MTHFR, and HFE(G388A, C677T, and H63D) are not useful in breast cancer diagnosis, but they may be significant additional prognostic markers related to breast cancer survival.
21569394 genetic causes of high ferritin levels in a child include juvenile hemochromatosis, an autosomal recessive disorder caused by the mutation of HJV (HFE2) gene [11], or, more rarely, of HAMP (HEPC) gene
21553046 The HFE H63D mutation carrier frequency in healthy Lebanese is comparable to other populations in the region, and it does not result in significant biochemical iron overload.
21426887 Heterozygosity for the C282Y allele of the hemochromatosis mutation gene could be associated with differences in iron parameters in dialysis patients.
21412944 SNP and haplotype analysis reveals new HFE variants associated with iron overload trait
21411349 The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation associated with HH in this sample. The HJV p.E302K and HAMP p.R59G variants, and the SLC40A1 p.204S mutation may also be linked to primary iron overload
21407826 HFE gene post-transcriptional regulation is clearly affected by a tissue-dependent alternative splicing mechanism.
21384276 No significant differences are found in genotype and allele frequencies between Parkinson's disease patients and controls for the HFE polymorphisms studied.
21354231 Our systematic review does not support an association between the HFE genetic variants (C282Y and H63D)and the presence of nonalcoholic fatty liver disease.
21349849 the HFE H63D mutant protein is associated with prolonged ER stress and chronically increased neuronal vulnerability.
21332426 The current study supports the role of the HFE p.H63D polymorphism as a genetic risk for White Matter Disease
21243428 Data show that both the 63D and C282Y variants of HFE induced significant changes in the sphingolipid composition of the SH-SY5Y human neuroblastoma cells in which they were expressed.
21228038 four rare HFE mutant alleles, three of which have not been previously described
21190189 The human neuroblastoma and glioma cells that expressed the C282Y HFE variant were resistant to chemotherapeutic agents.
21165552 Detection of soluble HFE associated with soluble transferrin receptor in human serum.
21145803 The rs2858996/rs707889 polymorphisms in the HFE gene may be associated with reversible ALT elevation in pazopanib-treated patients with renal cell carcinoma.
21082925 Evidence suggests a limited role for digenic inheritance of mutations in iron homeostasis genes in modifying the penetrance of HFE hemochromatosis.
21067572 Observational study of gene-disease association. (HuGE Navigator)
21039223 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20974500 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20957336 Observational study of gene-disease association. (HuGE Navigator)
20954257 Observational study of gene-disease association. (HuGE Navigator)
20950210 Observational study of gene-disease association. (HuGE Navigator)
20927387 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20858683 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20843714 novel p.V256I mutation could not be implicated in the molecular basis of the HH phenotype, although its role cannot be completely excluded in HH-phenotype development
20817350 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20814896 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20813792 Observational study of gene-disease association. (HuGE Navigator)
20805500 results show regulated expression of HFE by ubiquitination, consistent with a role in cellular iron homeostasis, a molecular mechanism targeted by Kaposi's sarcoma-associated herpesvirus to achieve a positive iron balance
20800508 carried out meta-analyses of the associations between hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, C282Y/wild-type, H63D/H63D, H63D/wild-type, versus wild-type/wild-type and iron overload, both provisional and documented [meta-analysis]
20800508 Meta-analysis of gene-disease association. (HuGE Navigator)
20739079 Observational study of gene-disease association. (HuGE Navigator)
20734416 Presence of the HFE H63D allele enables factors that trigger neurodegenerative processes associated with Alzheimer's disease and predisposes cells to cytotoxicity.
20722701 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20714725 Both genotypes associated to hereditary hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.
20714725 Observational study of gene-disease association. (HuGE Navigator)
20675164 non-functional C282Y form of HFE may alter the balance between cytosolic calcein-chelatable iron and sequestered iron, thereby disrupting the iron uptake and release equilibrium in cells involved in iron storage.
20673159 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20670400 HFE genotypes do not seem to be a significant contributor to the etiology of heart failure in Denmark.
20670400 Observational study of gene-disease association. (HuGE Navigator)
20669231 Epithelial ovarian cancer patients with at least one HFE C282Y allele had a decreased overall survival compared to those with no C282Y allele
20669231 Observational study of gene-disease association. (HuGE Navigator)
20659343 These results suggest that the HFE H63 D genotype modifies lead's effects on infant birthweight in a complex fashion that may reflect maternal-fetal interactions with respect to the metabolism and transport of metals
20659343 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20642794 The HFE H63D polymorphism may contribute to the development of sporadic amyotrophic lateral sclerosis in Chinese
20642794 Observational study of gene-disease association. (HuGE Navigator)
20642366 Different genotypes of the HFE gene occur at different frequencies among populations of Russia.
20642366 Observational study of genotype prevalence. (HuGE Navigator)
20640879 HFE mutations are associated with increased risk of incident CHD in women
20640879 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20634490 transferrin receptor 2 and HFE are involved in holotransferrin-dependent signaling for the regulation of furin which involved Erk phosphorylation. Furin in turn may control hepcidin expression.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20618438 glycosylation is important for the normal intracellular trafficking and functional activity of HFE
20607553 The p.C282Y/p.C282Y genotype is necessary for the development of HFE haemochromatosis. Expression of iron overload in people with this genotype depends on the complex interplay of environmental factors and modifier genes. Review.
20594259 Report prevalence of homozygotic H63D mutation in patients with phenotypic hemochromatosis and compare the results with those of the general population and with patients with porphyria cutanea tarda in the Basque Country, Spain.
20594259 Observational study of gene-disease association. (HuGE Navigator)
20587610 Observational study of gene-disease association. (HuGE Navigator)
20586792 Multiple sclerosis patients carrying the C282Y variant of the HFE gene seem to have a worse prognosis.
20586792 Observational study of gene-disease association. (HuGE Navigator)
20583211 Hemochromatosis gene Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
20583211 Observational study of gene-disease association. (HuGE Navigator)
20575041 Observational study of gene-disease association. (HuGE Navigator)
20563578 Results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA.
20563578 Observational study of gene-disease association. (HuGE Navigator)
20560808 In osteoarthritis patients with HFE gene mutations, iron overload may contribute either directly or indirectly to osteochondral damage, possibly in a similar way to that which occurs in the arthropathy that complicates hereditary haemochromatosis.
20560808 Observational study of gene-disease association. (HuGE Navigator)
20555268 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20503453 Data suggest that HFE mutations conferred no additional hepatic fibrosis risk in nonalcoholic fatty liver disease (NAFLD), but higher serum iron was a risk factor for severe liver damage in NAFLD, regardless of HFE mutations.
20503453 Observational study of gene-disease association. (HuGE Navigator)
20485444 Observational study of gene-disease association. (HuGE Navigator)
20478760 The HFE H63D polymorphism, but not the C282Y mutation, appears to enhance susceptibility to the deleterious impact of cumulative lead on PP, possibly via prooxidative or pro-inflammatory mechanisms.
20478760 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20464957 The high frequency of chromosome aberrations was associated with homozygotes of the high activity COMT G/G and HFE CC. Heterozygotes for G1947A COMT and C187G HFE reveal negative association with the high frequency of chromosome aberrations.
20464957 Observational study of gene-disease association. (HuGE Navigator)
20447705 No risk association is found between high iron stores and first-ever myocardial infarction in HFE genotypes.
20447705 Observational study of gene-disease association. (HuGE Navigator)
20437058 Observational study of genetic testing. (HuGE Navigator)
20424537 The prevalence of HFE mutations in ALD patients is similar to that observed in healthy subjects and comparable to the prevalence in other Central European countries.
20424537 Observational study of gene-disease association. (HuGE Navigator)
20400082 there does not appear to be increased susceptibility to iron-induced vascular atherosclerotic damage in HFE C282Y carriers
20400082 Observational study of gene-disease association. (HuGE Navigator)
20392616 Hyperferritinemia was associated with increased vascular damage only in patients with HFE genotypes associated with hepcidin upregulation by iron stores.
20345568 Observational study of gene-disease association. (HuGE Navigator)
20337854 Observational study of gene-disease association. (HuGE Navigator)
20218273 Observational study of gene-disease association. (HuGE Navigator)
20216079 the HFE H63D mutation may increase susceptibility to nonalcoholic fatty liver disease probably associated with peripheral iron overload, especially in males
20216079 Observational study of gene-disease association. (HuGE Navigator)
20208481 Observational study of gene-disease association. (HuGE Navigator)
20199637 Observational study of gene-disease association. (HuGE Navigator)
20196837 C282Y mutation was associated with HCC in European alcoholic LC patients.
20196837 Meta-analysis of gene-disease association and gene-environment interaction. (HuGE Navigator)
20194081 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20193033 Observational study of gene-disease association. (HuGE Navigator)
20190684 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20178892 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20164577 The differential gender-associated risks of developing neurodegenerative diseases and age at onset may be associated with interactionsbetween iron genes and brain iron accumulation.
20164577 Observational study of gene-disease association. (HuGE Navigator)
20160468 The C282Y polymorphism is associated with sex hormone-binding globulin levels in men who do not manifest iron overload.
20160468 Observational study of gene-disease association. (HuGE Navigator)
20145272 Observational study of gene-disease association. (HuGE Navigator)
20117027 study shows that rare HFE mutations can explain an iron overload phenotype in a selected subset of subjects heterozygous for p.C282Y with markedly high transferrin saturation and prevalent hepatocellular iron overload
20107990 The HFE C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in a Spanish Mediterranean population.
20107990 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20101754 Observational study of gene-disease association. (HuGE Navigator)
20099304 HFE C282Y homozygotes have twice the risk of colorectal and breast cancer compared with those individuals without the C282Y variant.
20099304 Observational study of gene-disease association. (HuGE Navigator)
20097100 Mutation H63D in the hemochromatosis protein (HFE) gene was associated with a higher risk of type 2 diabetes mellitus, but did not appear to confer risk for diabetic chronic complications
20097100 Observational study of gene-disease association. (HuGE Navigator)
20084012 Observational study of genotype prevalence. (HuGE Navigator)
20073670 An unbiased estimate of the HFE C282Y homozygote prevalence in Norway is 0.75%.
20073670 Observational study of genetic testing. (HuGE Navigator)
20060900 Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D.
20031565 Total mean serum cholesterol and low-density lipoprotein levels were lower in C282Y homozygotes than in HFE wild-type participants.
20031565 Observational study of gene-disease association. (HuGE Navigator)
20031541 results of this large individual patient data meta-analysis do not support the view that HFE gene mutations are associated with an increased risk of coronary heart disease or acute myocardial infarction
20029940 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20027482 the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors and the HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.
20019189 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20008199 Observational study of gene-disease association. (HuGE Navigator)
20007136 Homozygous deletion of HFE is associated with hemochromatosis.
20007136 Observational study of genotype prevalence. (HuGE Navigator)
19960042 Observational study of gene-disease association. (HuGE Navigator)
19958990 Observational study of gene-disease association. (HuGE Navigator)
19948245 Observational study of gene-disease association. (HuGE Navigator)
19931264 There was no significant association between either the presence of HFE mutations or specific HFE genotypes and the severity of liver fibrosis in nonalcoholic fatty liver disease.
19931264 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19893773 Observational study of genetic testing. (HuGE Navigator)
19884647 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19879168 investigation of potential modifiers of p.C282Y/p.C282Y genotype expression: genetic association studies with a common SNP near BMP2 & alcohol drinking in hemochromatosis patients
19879168 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19876870 suggest that mutations C282Y and H63D in the HFE gene are not significant risk factors for the development of DM2 in Brazilian women
19876870 Observational study of gene-disease association. (HuGE Navigator)
19874572 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19862010 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19852572 Transferrin C2 and hemochromatosis C282Y alleles are not associated with increased risk for developing age-related macular degeneration (AMD) in Israel.
19852572 Observational study of gene-disease association. (HuGE Navigator)
19822954 No significant difference was observed in H63D variant frequency in type 2 diabetics.
19822954 Observational study of gene-disease association. (HuGE Navigator)
19820015 Mutations in HFE gene, favoring iron overload and causing hemochromatisis, could play an important role in the development of several phenotypes of primary hypertriglyceridemia.
19820015 Observational study of gene-disease association. (HuGE Navigator)
19819738 findings show that HFE is present in substoichiometric concentrations with respect to both TfR1 and TfR2 in liver tissue; finding supports a model, in which availability of HFE is limiting for formation of complexes with TfR1 or TfR2
19806355 identified the single-nucleotide polymorphism (SNP) rs807212 as a tagging SNP for the most common HFE region haplotype, which contains wild-type alleles of all HFE variants examined.
19799358 Observational study of gene-disease association. (HuGE Navigator)
19787796 identified mutations in HFE, SLC40A1, HAMP, HJV, TFR2, and FTL that could explain TRANSFERRIN SATURATION/SERUM FERRITIN heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D; results were correlated with racial groups
19775775 Mutant His63Asp HFE increases tau phosphorylation via glycogen synthase kinase (GSK)-3beta activity and iron-mediated oxidative stress.
19759876 None of the individuals in this cohort of Brazilian patients with the classical phenotype of HH had any of the aforementioned non-C282Y mutations in the HFE gene or any mutations in the TfR2 and SCL40A1 genes.
19747287 the heterozygous genotype was not associated with reduction of iron deficiency or iron-deficiency anaemia frequencies in both genders, but in male blood donors it was associated with a trend to elevated ferritin levels
19747287 Observational study of gene-disease association. (HuGE Navigator)
19734422 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19732172 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19731820 Mutations of HFE gene are not the major factor for iron overload in myelodysplastic syndrome or aplastic anemia patients.
19731820 Observational study of gene-disease association. (HuGE Navigator)
19715939 Frequency of HFE mutations among a kidney transplant population with versus without hepatitis C infectiion and its influence on liver and kidney functions.
19715939 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19711434 Observational study of gene-disease association. (HuGE Navigator)
19706067 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19681031 This is the first analysis of the S65C mutation in individuals suspected of having hereditary hemochromatosis in Brazil.
19681031 Observational study of gene-disease association. (HuGE Navigator)
19673882 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19656448 C282Y, H63D and S65C mutations in HFE gene were found in 95 individuals.
19656448 Observational study of gene-disease association. (HuGE Navigator)
19640812 HFE (hereditary hemochromatosis protein) gene mutations may be an addictional factor in iron overload in Wilson's disease; HFE gene mutations were present in 6/32 of the patients: all these patients were heterozygous for H63D
19640812 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19602897 Observational study of gene-disease association. (HuGE Navigator)
19554541 Although compound heterozygotes might maintain elevated iron indices during middle age, documented iron overload-related disease is rare.
19554541 Observational study of gene-disease association. (HuGE Navigator)
19541813 HFE mutations modulate the effect of iron on serum hepcidin-25 in chronic hemodialysis patients.
19541813 Observational study of gene-disease association. (HuGE Navigator)
19515364 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19500086 Observational study of gene-disease association. (HuGE Navigator)
19487139 HFE:CI-MPR binding was mediated through phosphorylated mannose residues on HFE
19481774 Observational study of gene-disease association. (HuGE Navigator)
19433916 Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania
19433916 Observational study of gene-disease association. (HuGE Navigator)
19429178 no evidence found of association between a CAT53 polymorphism and Alzheimer's Disease (AD), but found a significant negative association of the C282Y HFE mutation with AD
19429178 Observational study of gene-disease association. (HuGE Navigator)
19422651 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19420105 Observational study of gene-disease association. (HuGE Navigator)
19384175 Genetic findings in a series of adult patients with marked iron accumulation in their liver explants and cardiac failure despite the absence of HFE mutations.
19380292 Patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.
19375516 This review focuses on upstream molecular events resulting from the mislocalization of the aggregation-prone HFE C282Y protein leading to potential advances in treatment and diagnosis.
19359997 In this multicenter US study, the hepatic histopathologic features among C282Y homozygotes with phenotypically defined hemochromatosis were distinct from those of C282Y/H63D compound heterozygotes, and patients with other HFE genotypes.
19359997 Observational study of gene-disease association. (HuGE Navigator)
19291797 Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer.
19291797 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19271219 influence of extrinsic factors on the phenotypic expression of HFE gene variants in ethnic Danish men
19271219 Observational study of gene-disease association. (HuGE Navigator)
19267193 High serum ferritin concentrations are a distinguishing feature of Japanese NASH patients independent of HFE gene mutations.
19267193 Observational study of gene-disease association. (HuGE Navigator)
19264516 Observational study of gene-disease association. (HuGE Navigator)
19258483 HFE C282Y may exert a protective role against CMPD, escecially in the JAK2 V617F-positive CMPD subgroup.
19258483 Observational study of gene-disease association. (HuGE Navigator)
19254567 Because the HFE alpha3 domain interacts with receptor 2 (TfR2), these results supported the finding that TfR2/HFE complex is required for transcriptional regulation of hepcidin by holo-transferrin.
19237423 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19228389 results demonstrate that HFE polymorphisms influence the synthesis and release of chemokine monocyte chemoattractant protein-1, and the mechanism of action involves cellular iron status
19228389 Observational study of gene-disease association. (HuGE Navigator)
19222337 The results found no relevant role for the HFE gene mutation in porphyria cutanea tarda.
19222337 Observational study of gene-disease association. (HuGE Navigator)
19214511 evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE gene
19214511 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19165391 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19159930 high penetrance of the C282Y variant in Danish men followed by the H63D variant while the S65D variant had no significant impact on iron status markers
19159930 Observational study of gene-disease association. (HuGE Navigator)
19115475 confirms the presence of iron overload in alcoholics, which was more severe in the subset of subjects with liver disease, in parallel with an increased frequency of H63D HFE mutation
19115475 Observational study of gene-disease association. (HuGE Navigator)
19084217 The three variants in TF (rs3811647, rs1799852 and rs2280673) plus the HFE C282Y mutation explained approximately 40% of genetic variation in serum transferrin (p = 7.8 x 10(-25)).
19084217 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19074885 Observational study of gene-disease association. (HuGE Navigator)
19059216 These data suggest that beta2M is essential for the correct subcellular distribution of both HFE and hepcidin, two proteins, which are critical for iron homeostasis.
19030706 findings demonstrate the usefulness of quenched-FRET real-time PCR for the simultaneous detection of three mutations in the HFE gene.
19030706 Observational study of genetic testing. (HuGE Navigator)
19018338 Some symptoms and conditions associated with hemochromatosis were more prevalent among C282Y homozygotes identified by screening than among control subjects, but prevalences of most outcomes were similar in C282Y homozygotes and controls.
19018338 Observational study of gene-disease association. (HuGE Navigator)
19008010 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19002551 investigators looked at a possible association between H63D, S65C and C282Y mutations and the existence of diabetes mellitus in a population group in Ireland. They found no association.
19002551 Observational study of gene-disease association. (HuGE Navigator)
19001803 Hepatitis C is not linked with HFE mutations. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.
19001803 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18987350 Expression of beta2-microglobulin was higher in subjects carrying an H63D HFE allele, while expression of several markers was higher in subjects carrying a C282Y HFE allele.
18848943 Observational study of gene-disease association. (HuGE Navigator)
18846434 The HFE H63D mutation seems to be an important risk factor for impaired sperm motility and is clinically associated with male infertility.
18846434 Observational study of gene-disease association. (HuGE Navigator)
18842428 This papper reports frequency of the H63D polymorphism (13.25) in the Romanian population.
18842428 Observational study of genotype prevalence. (HuGE Navigator)
18820912 Observational study of gene-disease association. (HuGE Navigator)
18810584 S65C allele may contribute to the development of CM, but that these three HFE mutations do not appear to play a significant role in development of ischemic heart disease.
18810584 Observational study of gene-disease association. (HuGE Navigator)
18809758 Observational study of gene-disease association. (HuGE Navigator)
18795173 The joint presence of variant alleles in the HFE and TF genes showed the greatest effect, suggesting a gene-by-gene-by-environment interaction
18762941 Observational study of gene-disease association. (HuGE Navigator)
18705322 The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the different HFE gene mutations.
18705322 Observational study of gene-disease association. (HuGE Navigator)
18689356 Genome-wide association study of gene-disease association. (HuGE Navigator)
18683048 The H63D genotype was not significantly associated with iron indices.
18683048 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18675463 The frequency of HFE mutations was not different in multiple sclerosis compared to the general population
18675463 Observational study of gene-disease association. (HuGE Navigator)
18665827 the rate of change of serum ferritin in untreated HFE (hemochromatosis protein) C282Y homozygotes is highly variable and may increase or decrease over time
18665827 Observational study of gene-disease association. (HuGE Navigator)
18657084 the heterozygous state for HFE mutations is associated with alterations in hepcidin expression in blood donors
18633618 Results describe the allele frequency of HFE mutations in a population of Argentinian blood donors.
18593631 HFE homozygotes have reduced low-density lipoprotein cholesterol.
18593631 Observational study of gene-disease association. (HuGE Navigator)
18566337 Directed screening for iron overload and/or HFE mutations appears unwarranted in patients with type 2 diabetes
18566337 Observational study of gene-disease association. (HuGE Navigator)
18565609 Observational study of gene-disease association. (HuGE Navigator)
18565178 Observational study of gene-disease association. (HuGE Navigator)
18542962 H63D amino aacid substitution frequency in the HFE gene in Denmark is close to the frequencies in other Scandinavian countries.
18542962 Observational study of genotype prevalence. (HuGE Navigator)
18525129 In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample.
18525129 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18524764 HFE decreases the stability of Zip14 and therefore reduces the iron loading in HepG2 cells
18521456 HFE mutations were not found in excess in patients with T2DM, and there was no evidence that a population-based search for an excess of these alleles in type 2 diabetes was indicated.
18521456 Observational study of gene-disease association. (HuGE Navigator)
18500222 A high prevalence of HFE mutation among hemodialysis patients was observed
18500222 Observational study of gene-disease association. (HuGE Navigator)
18470614 Barrett's esophagus is not associated with hemochromatosis gene defects.
18470614 Observational study of gene-disease association. (HuGE Navigator)
18462792 mutation could be a disease marker for myelodysplasia
18460494 Observational study of gene-disease association. (HuGE Navigator)
18452683 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18429050 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
18419350 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18403938 Observational study of gene-disease association. (HuGE Navigator)
18395717 HFE and TF genes together may influence the hypothalamic-pituitary-gonadal axis, functioning at the pituitary or testes level.
18395717 Observational study of gene-disease association. (HuGE Navigator)
18363869 Twenty-nine different families with A1-B8 had a common founder origin 15 generations ago in small bottleneck populations of the late 16th century. A second A1-B8 founder born 1655 was of Norwegian origin.
18353247 observations indicate that HFE influences the functional properties of TfR2, and suggests a model in which the interaction of these proteins might influence signal transduction to hepcidin
18327584 H63D mutation in HFE(hemochromatosis protein) may not contribute with the anticipation of either sporadic or familial Alzheimers disease
18327584 Observational study of gene-disease association. (HuGE Navigator)
18325820 We conclude that in the Italian population, the most common HFE mutations, H63D and C282Y are not associated with the individual risk to develop PD.
18325820 Observational study of gene-disease association. (HuGE Navigator)
18317757 Observational study of genotype prevalence. (HuGE Navigator)
18300942 This study does not support an association between Parkinson's disease and mutations of the CYP2D6 and HFE genes.
18300942 Observational study of gene-disease association. (HuGE Navigator)
18289891 study determined the prevalence of the H63D, S65C and C282Y mutations in blood donors from from Antioquia region of northwest Colombia
18284459 In the environment of a large tertiary teaching hospital, phenotypic screening identifies cases of hereditary hemochromatosis (homozygous for the Cys282Tyr mutation), who are likely to benefit from therapeutic phlebotomy.
18284459 Observational study of genotype prevalence. (HuGE Navigator)
18276042 Observational study of gene-disease association. (HuGE Navigator)
18273820 Observational study of gene-disease association. (HuGE Navigator)
18263976 Observational study of genotype prevalence. (HuGE Navigator)
18201677 Observational study of genetic testing. (HuGE Navigator)
18199861 Observational study of gene-disease association. (HuGE Navigator)
18199861 In persons who are homozygous for the C282Y mutation, iron-overload-related disease developed in a substantial proportion of men but in a small proportion of women.
18194242 Observational study of gene-disease association. (HuGE Navigator)
18182079 screened by direct sequencing the coding sequence and intron-exon boundaries of HFE in 265 patients with hyperferritinemia and 185 subjects from the general population
18182079 Observational study of gene-disease association. (HuGE Navigator)
18164971 Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population.
18164971 Observational study of gene-disease association. (HuGE Navigator)
18079565 The researchers found that morbidity in first-degree family members of C282Y-homozygous probands with confirmed hereditary hemochromatosis was higher than in matched controls.
18073584 Observational study of gene-disease association. (HuGE Navigator)
18061976 metacarpophalangeal arthropathy was independently associated with older age, higher ferritin, the presence of the C282Y +/+ and C282Y/H63D hemochromatosis protein(HFE) genotypes and higher percentage of transferrin saturation.
18061976 Observational study of gene-disease association. (HuGE Navigator)
18061182 Observational study of gene-disease association. (HuGE Navigator)
18054440 Hemochromatosis is caused by a disruption of iron hemostasis due to mutations in the HFE gene.
18042412 novel heterozygous mutation in exon 3 of the HFE-gene that was co-inherited with Cys282Tyr in 2 unrelated Dutch men with hereditary hemochromatosis; the c.548T>C mutation converts a leucine to a proline residue at position 183 in the alpha2-helix of HFE
18036208 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
18036208 Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two additional mutations, H63D and S65C, appear to be associated with a milder form of hereditary hemochromatosis
18025780 mutations reduce the amount of r-HuEPO and iron necessary to support erythropoiesis in hemodialysis
18025780 Observational study of gene-disease association. (HuGE Navigator)
18005180 determined the prevalence of the HFE H63D and C282Y allele in the Antioquian community; these mutations were probably taken to Antioquia by Spanish and/or Jewish migrants
17976429 The within-person biological variability of transferrin saturation and unsaturated iron-binding capacity limits their usefulness as an initial screening test for expressing C282Y homozygotes.
17973580 Observational study of gene-disease association. (HuGE Navigator)
17959863 Normal glucose tolereant carriers of this gene show A significantly higher baseline insulin sensitivity.
17956864 the TfR2/HFE and TfR1/HFE interactions are distinct.
17949288 Observational study of genotype prevalence. (HuGE Navigator)
17924859 Observational study of gene-disease association. (HuGE Navigator)
17916170 Observational study of gene-disease association. (HuGE Navigator)
17895769 study did not show any apparent protective role of HFE mutations (including C282Y) for peripheral neuropathy in HIV-positive patients on HAART
17878720 Observational study of gene-disease association. (HuGE Navigator)
17878720 HFE genotypes did not influence the risk of ischemic or hemorrhagic stroke.
17847004 tested the association between common variants in candidate genes and hemochromatosis penetrance, in a large sample of HFE C282Y homozygotes, using pretherapeutic serum ferritin level as marker of hemochromatosis penetrance
17828789 Meta-analysis of gene-disease association. (HuGE Navigator)
17767550 Observational study of gene-disease association. (HuGE Navigator)
17767550 study is the first to report that MCP-1 serum levels are elevated in association with the HFE H63D mutation and not the C282Y mutation in patients with hereditary hemochromatosis
17729389 We review the literature regarding the prevalence, hepatic distribution and possible therapeutic implications of iron overload in chronic hepatitis C, hepatitis B, alcoholic and non-alcoholic fatty liver diseases and porphyria cutanea tarda.
17724144 Observational study of gene-disease association. (HuGE Navigator)
17722428 Observational study of genotype prevalence. (HuGE Navigator)
17718867 The frequencies of the C282Y, H63D, and S65C mutations in the HFE gene in a general sample from Corsica are reported for the first time, suggesting an absence of HH type I in this population.
17710673 Observational study of genotype prevalence. (HuGE Navigator)
17710673 Hereditary hemochromatosis is a common genetic disease caused by accumulation of iron in the body. Most cases are homozygous for the C282Y mutation in the HFE gene, but only a minority of homozygotes will ever suffer from clinical hemochromatosis.
17687449 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17687449 HFE polymorphisms greatly enhance susceptibility to lead-related cognitive impairment.
17680648 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17680648 The HFE C282Y heterozygous mutation is associated with advanced fibrosis among Caucasians with nonalcoholic steatohepatitis.
17661915 Observational study of genotype prevalence. (HuGE Navigator)
17661915 Low incidence of HFE gene mutations could be a reason for the rarity of hereditary hemochromatosis in the Chinese Han population studied.
17661761 Observational study of genotype prevalence. (HuGE Navigator)
17654685 Observational study of gene-disease association. (HuGE Navigator)
17650303 Both the ER overload response (EOR) and the unfolded protein response (UPR) are activated by mutant C282Y HFE protein.
17637512 Observational study of gene-disease association. (HuGE Navigator)
17637512 H63D heterozygosity has no significant effect on the serum ferritin level.
17628213 Observational study of gene-disease association. (HuGE Navigator)
17626021 analysis of how chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation
17598005 REVIEW OF GENETIC POLYMORPHISMS IN FXIII AND HFE AND THEIR INVOLVEMENT IN VENOUS ULCER AND WOUND HEALING
17597476 Observational study of gene-disease association. (HuGE Navigator)
17589946 Observational study of gene-disease association. (HuGE Navigator)
17589946 Primary iron overload in Indians is non-HFE type, which is different from that in Europeans and further molecular studies are required to determine the defect in various iron regulatory genes.
17585191 The presence of H63D mutation found, either heterozygote or homozygote, among the nonalcoholic fatty liver disease patients with peripheral iron overload.
17585191 Observational study of gene-disease association. (HuGE Navigator)
17573946 Observational study of gene-disease association. (HuGE Navigator)
17565641 Observational study of gene-disease association. (HuGE Navigator)
17543888 analysis of the localisation and functional effects of the HFE and its chaperone protein beta2M
17525682 Observational study of genetic testing. (HuGE Navigator)
17474269 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17474269 Thalassemia intermedia patients with co-existent HFE mutation H63D have a higher likelihood of developing iron overload and may require early iron chelation.
17420932 9 out of every 100,000 African-Americans have a hemochromatosis phenotype and 2 common HFE mutations.
17410459 Observational study of gene-disease association. (HuGE Navigator)
17410459 Iron overload is not related to H63D mutation but is positively correlated with biochemical activity and Child-Pugh score in chronic liver diseases.
17401564 Observational study of genotype prevalence. (HuGE Navigator)
17401564 in north Indian sample, no allele of C282Y mutation of HFE protein was seen, while 3 homozygous and 43 heterozygous H63D mutations were seen in thalassemia group; 47 heterozygotes for H63D mutation were seen in controls
17389307 Observational study of gene-disease association. (HuGE Navigator)
17362299 Observational study of gene-disease association. (HuGE Navigator)
17313717 Observational study of gene-disease association. (HuGE Navigator)
17308297 Observational study of gene-disease association. (HuGE Navigator)
17303462 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17299255 Observational study of gene-disease association. (HuGE Navigator)
17299255 In hemodialysis patients, hyperferritinemia reflects a relative increase in iron availability and a decrease in iron-specific antioxidant activity, is favored by HFE mutations, and represents a risk factor for advanced cardiovascular damage.
17298224 Observational study of gene-disease association. (HuGE Navigator)
17298224 A significant role of the HFE gene C282Y mutation in the pathogenesis of porphyria cutanea tarda.
17297430 Observational study of gene-disease association. (HuGE Navigator)
17297430 Iron overload has been associated with HFE mutations (C282Y and H63D).
17284543 Observational study of gene-disease association. (HuGE Navigator)
17284543 The HFE H63D variant may explain, at least in part, the prevalence of arthralgia in multiple joints sites, chondrocalcinosis, and hand osteoarthritis in the general population.
17279416 establishes the incidence of the HFE gene C282Y and H63D mutations in largest immigrant groups in Madrid
17240320 Observational study of gene-disease association. (HuGE Navigator)
17240320 the HFE IVS5+1 G/A splice site mutation is not the major explanation for unexpectedly high prevalence of high transferrin saturation and high serum ferritin in North American Asians
17235517 for the HFE gene,C282Y allele frequency in Murcians is among lowest reported in Europe, while H63D mutation frequency is one of highest reported to date
17228846 Observational study of gene-disease association. (HuGE Navigator)
17212677 Observational study of gene-disease association. (HuGE Navigator)
17212677 Our data suggest that the HFE gene is not a major disease gene for migraine.
17210810 Observational study of gene-disease association. (HuGE Navigator)
17210810 H63D mutations in HFE play a role in the pathogenesis of ALS in various populations. This association might involve a later-onset subset of ALS.
17194693 Data demonstrate that the different mutations in the HFE gene have unique effects on the cells and provide insights into how the different mutations may have different clinical consequences.
17160266 Observational study of genotype prevalence. (HuGE Navigator)
17160266 The higher frequency of inheritance of the C282Y mutation in the HFE gene among Brazilian beta-thalassemic patients may contribute to worsen the clinical picture of these individuals.
17160239 Observational study of gene-disease association. (HuGE Navigator)
17160239 The findings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended.
17145987 Observational study of gene-disease association. (HuGE Navigator)
17145987 The effect of particlete air pollution on cardiac autonomic function was shielded in subjects with at least 1 copy of an HFE variant compared with wild-type subjects.
17137171 Observational study of gene-disease association. (HuGE Navigator)
17135308 Observational study of gene-disease association. (HuGE Navigator)
17116317 Observational study of gene-disease association. (HuGE Navigator)
17108759 Observational study of genetic testing. (HuGE Navigator)
17107905 Observational study of gene-disease association. (HuGE Navigator)
17107905 demonstrate a correlation between the presence of the H63D mutation and the occurrence of acute lymphoblastic leukemia in adult patients
17101320 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17079357 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
17067586 Observational study of gene-disease association. (HuGE Navigator)
17067586 Our data suggest that the C282Y and H63D HFE gene mutations are not risk factors for male infertility and are not associated with clinical manifestations of male infertility.
17065702 polycystic ovary syndrome is not associated with the C82Y and H63D mutations in HFE
17062032 Observational study of gene-disease association. (HuGE Navigator)
17062032 This study confirms the high frequency of C282Y mutation in patients with porphyria cutanea tarda and its relationship with iron overload.
17061732 Observational study of genotype prevalence. (HuGE Navigator)
17058523 Observational study of genotype prevalence. (HuGE Navigator)
17056630 Observational study of gene-disease association. (HuGE Navigator)
17047092 Observational study of gene-disease association. (HuGE Navigator)
17042772 Observational study of gene-disease association. (HuGE Navigator)
17013646 Observational study of genotype prevalence. (HuGE Navigator)
17013646 46% of this Mediterranean population of Spain are carriers of at least one of the three mutations that can increase iron absorption.
17011669 Observational study of gene-disease association. (HuGE Navigator)
17006922 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17003003 Observational study of gene-disease association. (HuGE Navigator)
17001480 Observational study of gene-disease association. (HuGE Navigator)
16990695 the homozygous Cys282Tyr missense mutation and high levels of serum ferritin. It is important to recognise the symptoms of iron overloading at an early stage because hereditary haemochromatosis needs to be treated immediately.
16979952 Observational study of gene-disease association. (HuGE Navigator)
16968463 Observational study of gene-disease association. (HuGE Navigator)
16964543 Observational study of gene-disease association. (HuGE Navigator)
16950433 Observational study of gene-disease association. (HuGE Navigator)
16936157 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16935420 Observational study of gene-disease association. (HuGE Navigator)
16935420 we identified two novel variants (K92N and I217T) each in a single PD patient.
16893896 HFE and TFR2 interact in cells; this interaction is not abrogated by disease-associated mutations of HFE and TFR2; and that TFR2 competes with TFR1 for binding to HFE
16878186 Observational study of gene-disease association. (HuGE Navigator)
16849282 Observational study of genotype prevalence. (HuGE Navigator)
16849282 determined race-specific frequencies of the HFE mutations, C282Y and H63D
16847405 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16841247 Apical distribution of HFE-beta2-microglobulin is associated with inhibition of apical iron uptake in intestinal epithelia cells.
16838333 The clinical phenotypes and hemochromatosis (HFE) genotypes of adults who develop iron overload after ingesting iron supplements over long periods are heterogeneous.
16824219 Observational study of gene-disease association. (HuGE Navigator)
16802538 Observational study of gene-disease association. (HuGE Navigator)
16802538 present data indicate thet there is a link between HFE mutations and idiopathic dilated cardiomyopathy due to a high proportion of patients being either C282Y homozygotes or C28Y/H63D compound heterozygotes
16802007 Observational study of gene-disease association. (HuGE Navigator)
16802007 The relatively high frequency of HFE H63D allele carriers in Egyptian cases of HCV liver cirrhosis suggests the need to routinely screen for this risk genotype among affected families.
16755236 Observational study of gene-disease association. (HuGE Navigator)
16728543 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16728543 a population harboring abnormal iron markers had a different HFE genotype and a higher 282Y allele frequency than the control population
16678024 Observational study of gene-disease association. (HuGE Navigator)
16672055 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
16649670 Observational study of genotype prevalence. (HuGE Navigator)
16649670 Analysis of the C282Y and H63D mutations in the HFE gene was carried out in 594 individuals representing seven indigenous populations of Central Asia.
16638105 Observational study of gene-disease association. (HuGE Navigator)
16615226 Observational study of genotype prevalence. (HuGE Navigator)
16615007 Observational study of gene-disease association. (HuGE Navigator)
16584391 Glucose intolerance may be important risk factor for the development of hepatic fibrosis in subjects with the C282Y/H63D HFE genotype.
16583477 Observational study of gene-disease association. (HuGE Navigator)
16537242 Scandinavian countries are particularly affected by having one of highest prevalence of the C282Y mutations world-wide.
16520984 Observational study of genotype prevalence. (HuGE Navigator)
16503999 Observational study of gene-disease association. (HuGE Navigator)
16503999 HFE H63D mutation frequencies are increased in breast cancer patients
16468045 The diagnosis of hemochromatosis was confirmed by genetic analysis showing homozygosity for the mutation.
16454835 Observational study of gene-disease association. (HuGE Navigator)
16454835 HFE mutations, although modestly influencing liver iron, do not predispose to clinically significant ALD.
16451136 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16433696 Observational study of genotype prevalence. (HuGE Navigator)
16433696 study of H63D homozygotes supports the conclusion that this genotype must be taken into account, because it confers an increased risk of iron overload and genetic susceptibility to developing hereditary hemochromatosis or to aggravating other diseases
16414021 Observational study of gene-disease association. (HuGE Navigator)
16399493 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16393683 Observational study of gene-disease association. (HuGE Navigator)
16364490 study of H63D homozygotes supports the conclusion that this genotype must be taken into account, because it confers an increased risk of iron overload and genetic susceptibility to developing hereditary hemochromatosis or to aggravating other diseases
16337066 Feasibility of screening for an amino acid substitution at birth.
16324464 Observational study of gene-disease association. (HuGE Navigator)
16315134 Type 1 hereditary hemochromatosis is a common disorder of iron overload occurring in individuals homozygous for the C282Y HFE gene mutation.
16314188 Observational study of gene-disease association. (HuGE Navigator)
16306377 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16306377 Potential interaction between HFE genotypes and heme iron intake in relation to the risk of type 2 diabetes
16285477 Observational study of genotype prevalence. (HuGE Navigator)
16285477 The present study involving hospital patients estimated a HFE Cys282Tyr allele frequency of 4.44% and supports the emerging concept of an allele gradient decreasing from North to South within Germany.
16273299 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16273299 initial assessment of the prevalence of C282Y and H62D HFE gene mutations and their influence on the course of chronic hepatitis C
16225403 Observational study of gene-disease association. (HuGE Navigator)
16222171 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16216474 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16216474 Possible association between the C282Y and H63D mutations in the HFE gene and estrogen-dependent cancer risk was assessed.
16210711 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16186539 Observational study of gene-disease association. (HuGE Navigator)
16186539 They found that the HFE protein H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).
16178952 Observational study of gene-disease association. (HuGE Navigator)
16174659 Observational study of gene-disease association. (HuGE Navigator)
16174459 Observational study of gene-disease association. (HuGE Navigator)
16157826 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16140024 Observational study of gene-disease association. (HuGE Navigator)
16138214 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16123136 direct recognition of mouse Hfe molecules by cytotoxic T lymphocytes (CTLs) was demonstrated in DBA/2 Hfe knockout mice
16113552 Observational study of gene-disease association. (HuGE Navigator)
16113552 In North and Central European patients with gestational diabetes, the C282Y allele frequency is higher than in healthy pregnant women, suggesting a genetic susceptibility
16113534 Observational study of genotype prevalence. (HuGE Navigator)
16113534 C282Y mutation may be more common in the non-Hispanic Caucasian population than previously reported in hemochromatosis.
16105133 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16103673 central pathogenetic step in HFE-related hemochromatosis is an impaired basal expression of HAMP rather than a lack of HAMP upregulation in response to iron stores
16102632 Observational study of gene-disease association. (HuGE Navigator)
16102632 HFE C282Y mutation significantly increases the risk of venous leg ulceration in primary cardiovascular diseases by almost 7 times.
16055358 Observational study of genotype prevalence. (HuGE Navigator)
16055358 data suggest that either the penetrance of C282Y in Russia is lower than in Western countries, or that a more frequent non-HFE dependent mechanism of primary iron overload dominates in Russian population.
16047841 Observational study of gene-disease association. (HuGE Navigator)
16047841 heterozygosity for HFE gene C282Y mutation may be a risk factor for juvenile idiopathic arthritis but not for polymyositis and dermatomyositis.
16043695 HIV-1 Nef down-regulates the macrophage-expressed MHC 1b protein HFE, which regulates iron homeostasis and is mutated in the iron-overloading disorder hemochromatosis.
16043695 Myristoylation of HIV-1 Nef at position 2 and the PxxP proline-rich motif of Nef at positions 62-65 are required for Nef-induced downregulation of HFE; amino acid residue Y282 in HFE is involved in the downregulation by Nef
16039334 Observational study of genetic testing. (HuGE Navigator)
16012706 Results suggest that HFE mutations are not associated with a growth advantage for cancer cells.
16011012 Observational study of genetic testing. (HuGE Navigator)
16003728 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15995871 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15991291 Observational study of gene-disease association. (HuGE Navigator)
15991291 HFE mutations may not contribute to iron accumulation in chronic hepatitis C or nonalcoholic fatty liver disease.
15990686 Observational study of gene-disease association. (HuGE Navigator)
15965644 Q283P mutation of HFE protein leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation.
15956653 Observational study of gene-disease association. (HuGE Navigator)
15955425 Observational study of gene-disease association. (HuGE Navigator)
15955425 multiple sclerosis patients carrying the mutant C282Y allele exhibited earlier onset of disease symptom relative to other genotypes, but it warrants further study in a larger series of MS patients.
15941956 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15941661 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15929798 Observational study of genetic testing. (HuGE Navigator)
15929796 Observational study of gene-disease association. (HuGE Navigator)
15929796 Only a very small proportion of homozygotes for HFE C282Y mutation developed hepatocellular carcinoma. However, individuals with this genotype have a significantly increased risk of this rare disease relative to those who do not carry the mutations.
15914210 Observational study of gene-disease association. (HuGE Navigator)
15894659 Observational study of gene-disease association. (HuGE Navigator)
15894495 Observational study of gene-environment interaction. (HuGE Navigator)
15885363 Observational study of gene-disease association. (HuGE Navigator)
15880641 Transferrin receptor and hemochromatosis factor, as well as TfR and DMT1 (divalent metal transporter-1) interact in placental trophoblast cells
15863667 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15863206 Observational study of gene-disease association. (HuGE Navigator)
15858186 Observational study of genotype prevalence. (HuGE Navigator)
15858186 The C282Y mutation is most common in whites, and most C282Y homozygotes, except nonwhites, have elevations in serum ferritin levels and transferrin saturation.
15840699 mutated HFE have reduced cell-surface expression of MHC class I due to an enhanced endocytosis rate of MHC class I molecules; the MHC class I peptide loading gives rise to low-stability heterotrimers that dissociate prematurely
15834437 Observational study of gene-disease association. (HuGE Navigator)
15817857 Observational study of gene-environment interaction. (HuGE Navigator)
15815212 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15802547 HFE mutated patients had more severe hemophilia A arthropathy
15789881 Observational study of gene-disease association. (HuGE Navigator)
15785438 Observational study of gene-disease association. (HuGE Navigator)
15780041 Observational study of gene-disease association. (HuGE Navigator)
15780041 HFE gene mutation cinsidered in patients with chronic viral hepatitis in taiwan.
15777346 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15777346 H63D is prevalent and C282Y is rare in north Indians and the presence of 63D mutation does not increase body iron as measured by serum ferritin in beta thalassemia traits.
15775751 Meta-analysis and HuGE review of gene-disease association and gene-gene interaction. (HuGE Navigator)
15763983 Observational study of gene-disease association. (HuGE Navigator)
15740492 Observational study of gene-disease association. (HuGE Navigator)
15740492 Additional risk of hereditary hemochromatosis given by class I HLA antigens may be secondary to the HFE gene linkage disequilibrium with certain class I alleles or to the existence of other neighboring genetic pathogenetic factors in our Spanish sample.
15727249 Observational study of gene-disease association. (HuGE Navigator)
15710569 HFE mutations do not directly alter erythroid iron handling, but alter the supply of iron to the erythroid tissues
15698609 Observational study of gene-disease association. (HuGE Navigator)
15684872 Observational study of genotype prevalence. (HuGE Navigator)
15673318 Observational study of gene-disease association. (HuGE Navigator)
15668853 Observational study of gene-disease association. (HuGE Navigator)
15668853 the major C282Y mutation was significantly more frequent in subjects infected with hepatitis B virus (4%) than in 194 control subjects (0%, P=.02; Fisher's exact test)
15668490 Observational study of gene-disease association. (HuGE Navigator)
15654232 Observational study of genetic testing. (HuGE Navigator)
15643457 Observational study of gene-disease association. (HuGE Navigator)
15642540 Observational study of gene-disease association. (HuGE Navigator)
15637751 Observational study of gene-disease association. (HuGE Navigator)
15637751 Our study does not favor iron overload and HFE gene mutations as major factors in the pathogenesis of NASH in Asian Indians.
15610558 Observational study of genotype prevalence. (HuGE Navigator)
15607698 In hemochromatosis probands with HFE C282Y homozygosity, disparate frequencies of HLA haplotypes A*03-B*07 and A*03-B*14 occur in men and women
15581829 Observational study of genotype prevalence. (HuGE Navigator)
15570296 Observational study of genotype prevalence. (HuGE Navigator)
15566515 Observational study of gene-disease association. (HuGE Navigator)
15546588 Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences.
15538648 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15531451 Observational study of gene-disease association. (HuGE Navigator)
15528154 Observational study of gene-disease association. (HuGE Navigator)
15517265 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15503019 Observational study of genotype prevalence. (HuGE Navigator)
15498100 Observational study of genotype prevalence. (HuGE Navigator)
15483651 Observational study of genetic testing and healthcare-related. (HuGE Navigator)
15477198 Observational study of genetic testing. (HuGE Navigator)
15467009 Transcriptional regulation of the HFE gene and analysis of the functional organization of the HFE promoter.
15447900 Observational study of gene-environment interaction. (HuGE Navigator)
15389541 over-expression of mHFE, but not of hHFE, in a mouse transformed cell line, results in a most significant inhibition of transferrin-uptake which correlated with apoptotic cell death
15388046 Observational study of genotype prevalence. (HuGE Navigator)
15377292 Observational study of gene-disease association. (HuGE Navigator)
15363617 Observational study of gene-disease association. (HuGE Navigator)
15352740 Observational study of gene-disease association. (HuGE Navigator)
15352740 Finds that HFE C282Y heterozygosity is 8.8 fold (95% CI 1.001, 77.8; p = 0.049) more prevalent in coronary artery disease patients, and finds HFE C282Y allele frequency in Curacao population higher than expected in persons of African descent.
15347835 Observational study of gene-disease association. (HuGE Navigator)
15347835 prevalence of nephropathy is higher in the group of patients carrying at least one of the hemochromatosis HFE protein C282Y or H63D mutations and study reports an earlier age of onset in type 2 diabetic patients carrying HFE mutations
15338274 Observational study of gene-disease association. (HuGE Navigator)
15319650 Observational study of gene-disease association. (HuGE Navigator)
15304122 Observational study of gene-disease association. (HuGE Navigator)
15304010 Observational study of genetic testing. (HuGE Navigator)
15302000 Observational study of gene-disease association. (HuGE Navigator)
15293136 Observational study of gene-disease association. (HuGE Navigator)
15287851 Observational study of gene-disease association. (HuGE Navigator)
15287851 role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C.
15280838 HFE gene analysis should be done in patients who present with porphyria cutanea tarda.
15273174 Observational study of gene-disease association. (HuGE Navigator)
15266614 Observational study of gene-disease association. (HuGE Navigator)
15259508 Observational study of gene-disease association. (HuGE Navigator)
15223008 Observational study of gene-disease association. (HuGE Navigator)
15222129 Observational study of gene-disease association. (HuGE Navigator)
15182337 Observational study of gene-disease association. (HuGE Navigator)
15175819 case control study shows no association between HFE polymorphisms and peripheral artery disease
15151632 Encodes an MHC class I-like molecule. HFE carrying the C282Y mutation is unable to interact with transferrin receptor 1. Liver is strongest site of HFE expression.
15141324 Observational study of genotype prevalence. (HuGE Navigator)
15136693 Observational study of gene-disease association. (HuGE Navigator)
15121519 Observational study of gene-disease association. (HuGE Navigator)
15101996 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15101996 HFE C282Y mutation may probably be an independent predisposing factor for development of porphyria cutanea tarda in Hungarian patients.
15099342 Observational study of gene-disease association and healthcare-related. (HuGE Navigator)
15075083 Neither HFE (C282Y and H63D) nor ferroportin(Val162del) mutations were determinants of total body iron status, as assessed by ferritin levels, in thalassemia intermedia and betas/betathal patients
15070663 Observational study of gene-disease association. (HuGE Navigator)
15061375 Observational study of gene-disease association. (HuGE Navigator)
15060098 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15060098 The combination of the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene increase susceptibility for developing Alzheimer's disease.
15056661 HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface.a physiological role for this competition in altering HFE trafficking patterns.
15044462 A multifunctional role for hereditary hemochromatosis protein that is dependent upon expression levels of proteins involved in iron transport.
15042317 Observational study of genotype prevalence. (HuGE Navigator)
15025725 Observational study of genetic testing. (HuGE Navigator)
15018631 Observational study of gene-disease association. (HuGE Navigator)
15017669 Observational study of gene-disease association. (HuGE Navigator)
15017669 HFE C282Y heterozygosity plays a role in liver iron deposition and could contribute to hepatocarcinogenesis via the accumulation of potentially carcinogenic iron.
15017658 Observational study of gene-disease association. (HuGE Navigator)
15013567 Observational study of gene-disease association. (HuGE Navigator)
15013567 Results of the present study do not implicate the two common HFE mutations (H63D and C282Y) as genetic modifiers of sporadic Alzheimer's disease and mild cognitive impairment.
14996353 Observational study of gene-disease association. (HuGE Navigator)
14973098 Observational study of gene-disease association. (HuGE Navigator)
14972004 Observational study of gene-disease association. (HuGE Navigator)
14966054 Observational study of gene-disease association. (HuGE Navigator)
14765621 Observational study of genotype prevalence. (HuGE Navigator)
14752836 Observational study of gene-disease association. (HuGE Navigator)
14742317 Prevalence of epsilon dA was significantly higher in specimens of alcoholic fatty liver and fibrosis patients but not in hepatitis samples. The prevalence in alcohol fibrosis was as high as in the liver from Wilson's disease and hemochromatosis patients.
14740507 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
14706682 Observational study of gene-disease association. (HuGE Navigator)
14703689 Observational study of gene-disease association. (HuGE Navigator)
14703689 results suggest that hemochromatosis protein HFE mutations C282Y and H63D are more frequent in Iranian beta-thalassemia patients than in the normal population
14703688 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
14703688 in the Danish population, homozygosity for the HFE hemochromatosis protein C282Y mutation appears to be the prevailing cause of clinically overt genetic haemochromatosis
14675248 Observational study of gene-disease association. (HuGE Navigator)
14671617 Observational study of genetic testing. (HuGE Navigator)
14671617 People with altered transferrin saturation levels carry hemochromatosis-associated genotypes.
14671616 Observational study of genotype prevalence. (HuGE Navigator)
14671616 The mild H63D and the severe C282Y mutations were found in hemochromatosis in Tunisia.
14670915 Observational study of gene-gene interaction. (HuGE Navigator)
14670915 Association of heterozygous mutations in the HFE and HAMP genes could lead to an adult-onset form of primary iron overload.
14667749 Observational study of genetic testing. (HuGE Navigator)
14648375 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
14642607 Observational study of gene-disease association. (HuGE Navigator)
14642607 C282Y +/+ shows limited biochemical expression and no trend towards age-related attrition and C282Y and H63D +/- may protect against iron deficiency.
14641999 Observational study of healthcare-related. (HuGE Navigator)
14636644 Observational study of gene-disease association. (HuGE Navigator)
14635204 Observational study of gene-disease association. (HuGE Navigator)
14633868 Observational study of genetic testing. (HuGE Navigator)
14618419 Observational study of gene-disease association. (HuGE Navigator)
14557859 Observational study of gene-disease association. (HuGE Navigator)
14503989 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
14499790 Observational study of genetic testing. (HuGE Navigator)
12972035 Meta-analysis of genotype prevalence. (HuGE Navigator)
12972032 Observational study of gene-disease association. (HuGE Navigator)
12961032 mutations in HFE gene is associated with spherocytosis
12952143 Observational study of genotype prevalence. (HuGE Navigator)
12948285 Observational study of gene-disease association. (HuGE Navigator)
12948285 The Cys282Tyr mutation is not associated with an increased risk for colorectal cancer in postmenopausal women, although in combination with smoking a slightly increased risk cannot be excluded.
12942784 we estimated allele frequencies of HFE mutations in Russians and in Siberian ethnic indigenous populations. It provides elucidation of the evolutionary genetic relationships between Siberian ethnic groups and the contemporary populations of Europe.
12940442 Observational study of gene-disease association. (HuGE Navigator)
12923017 Observational study of gene-disease association. (HuGE Navigator)
12915468 Mutations in HFE protein results in hemochromatosis
12907432 Observational study of gene-disease association. (HuGE Navigator)
12902032 Observational study of gene-disease association. (HuGE Navigator)
12885340 Observational study of genotype prevalence. (HuGE Navigator)
12885340 HFE mutations C282Y and H63D carrier rate in an Irish population of cystic fibrosis allele carriers
12874382 HFE can lower intracellular iron levels independently of its interaction with the transferrin receptor
12870733 Observational study of genotype prevalence. (HuGE Navigator)
12865759 Observational study of gene-disease association. (HuGE Navigator)
12865278 Observational study of gene-disease association. (HuGE Navigator)
12851225 Observational study of gene-environment interaction. (HuGE Navigator)
12850493 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12850485 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12850485 study performed in two samples of genetically homogeneous patients and controls does not support the suggestion that HFE mutations may be associated with acute myocardial infarction in susceptible individuals
12846904 Observational study of gene-disease association. (HuGE Navigator)
12792703 Observational study of gene-disease association. (HuGE Navigator)
12791037 Observational study of genotype prevalence. (HuGE Navigator)
12783844 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
12783844 We see no evidence for over-representation of iron loading HFE alleles in type 2 diabetes mellitus
12779071 Observational study of gene-disease association. (HuGE Navigator)
12779071 The mild iron overload associated with heterozygosity for C282Y HFE mutation confers susceptibility to nonalcoholic fatty liver disease
12770794 Observational study of genotype prevalence. (HuGE Navigator)
12763366 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12746412 Observational study of gene-disease association. (HuGE Navigator)
12746412 In a population of 1279 Caucasians with angiographically confirmed coronary status, there is no evidence of an association between the C282Y mutation in the haemochromatosis gene and prevalence of coronary artery disease and myocardial infarction
12745279 Observational study of genotype prevalence. (HuGE Navigator)
12737949 Observational study of genotype prevalence. (HuGE Navigator)
12714823 Observational study of genotype prevalence. (HuGE Navigator)
12714263 Observational study of gene-disease association. (HuGE Navigator)
12714263 trend for an increased frequency of H63D allele in centenarian women
12714262 Observational study of gene-disease association. (HuGE Navigator)
12714262 this study does not support the suggestion that H63D mutations may anticipate sporadic AD clinical presentation in susceptible individuals.
12712916 Observational study of gene-disease association. (HuGE Navigator)
12707938 Observational study of gene-disease association. (HuGE Navigator)
12707938 HFE and APOE genotypes are different between Alzheimer's disease patients, high cognitive impairment and low cognitive impairment
12699243 Observational study of gene-disease association. (HuGE Navigator)
12691865 Observational study of genetic testing. (HuGE Navigator)
12681966 Observational study of gene-disease association. (HuGE Navigator)
12673276 Observational study of gene-disease association. (HuGE Navigator)
12673276 HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis.
12673077 Observational study of gene-disease association. (HuGE Navigator)
12667993 Observational study of gene-disease association. (HuGE Navigator)
12667138 Interacts with transferrin receptors in endosomes
12662406 Observational study of genetic testing and healthcare-related. (HuGE Navigator)
12656741 The presence of TfR2 and absence of TfR1 suggests that HFE may serve a different function in platelets compared with the other HFE-positive cell types.
12651261 Observational study of genotype prevalence. (HuGE Navigator)
12635863 In patients with rheumatoid arthritis, 2/24 (8.34%) were found to be positive for the C282Y mutation in the case of heterozygosis compared with 3/24 (12.5%) of patients with spondylarthritis.
12624489 Observational study of gene-disease association. (HuGE Navigator)
12622622 Observational study of gene-disease association. (HuGE Navigator)
12614226 Observational study of gene-disease association. (HuGE Navigator)
12601293 Observational study of gene-disease association. (HuGE Navigator)
12601293 Results suggest that the H63D mutation in the hereditary hemochromatosis HFE gene may play a role in the pathogenesis of late onset type 2 diabetes.
12591066 Observational study of gene-disease association. (HuGE Navigator)
12589228 Observational study of genetic testing. (HuGE Navigator)
12586300 Observational study of gene-disease association. (HuGE Navigator)
12586300 C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. Screening for HFE mutations should be considered in HCV infection.
12584430 Observational study of gene-disease association. (HuGE Navigator)
12568299 Observational study of genotype prevalence. (HuGE Navigator)
12557137 Observational study of gene-disease association. (HuGE Navigator)
12557137 The presence of HFE mutations is independently associated with iron loading and advanced fibrosis in patients with compensated liver disease from chronic hepatitis C, especially after controlling for duration of disease.
12547216 Observational study of genotype prevalence. (HuGE Navigator)
12542741 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
12542499 Observational study of genetic testing. (HuGE Navigator)
12537659 Observational study of genotype prevalence. (HuGE Navigator)
12529348 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12529348 Subjects with any HFE gene mutation were more likely to have colon cancer than subjects with no HFE gene mutations.
12514663 Observational study of gene-disease association. (HuGE Navigator)
12512743 Genotyping of the C282Y and H63D substitutions in the HFE gene provides a satisfactory marker since these genotypes are associated with ~90% of herditary hemochromatosis.
12508966 Observational study of gene-disease association. (HuGE Navigator)
12508400 Observational study of gene-disease association. (HuGE Navigator)
12508400 an increased risk of osteoarthritis among individuals who are heterozygous for the C282Y HFE mutation.
12505233 Observational study of gene-disease association. (HuGE Navigator)
12482402 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12464008 These results suggest that the apparent iron-deficient phenotype elicited by haemochromatosis protein (HFE) is not linked to beta(2)microglobulin insufficiency.
12446481 Observational study of gene-disease association. (HuGE Navigator)
12445428 Observational study of gene-disease association. (HuGE Navigator)
12445428 HFE mutations more common in patients than controls, and advanced degrees of fibrosis developed at younger ages with C282Y mutation. Patients with C282Y had higher mean hepatic iron concentrations, hepatic iron indices, and hepatic fibrosis scores.
12445415 Observational study of gene-disease association. (HuGE Navigator)
12445172 Observational study of gene-disease association. (HuGE Navigator)
12436244 Observational study of gene-disease association. (HuGE Navigator)
12429850 HFE has two mutually exclusive functions, binding to TfR1 in competition with Tf, or inhibition of iron release from macrophages.
12427496 Observational study of gene-disease association. (HuGE Navigator)
12406023 Observational study of gene-disease association. (HuGE Navigator)
12394323 Observational study of gene-disease association. (HuGE Navigator)
12384978 Observational study of genotype prevalence. (HuGE Navigator)
12380399 Observational study of genotype prevalence. (HuGE Navigator)
12377814 Observational study of gene-disease association. (HuGE Navigator)
12364722 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12361551 Observational study of gene-disease association. (HuGE Navigator)
12241015 Observational study of gene-disease association. (HuGE Navigator)
12207823 Observational study of gene-disease association. (HuGE Navigator)
12198660 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
12190182 Observational study of genetic testing. (HuGE Navigator)
12180078 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
12180078 When combined with the C282Y mutation, the S65C mutation is associated with an increased risk of hemochromatosis.
12148086 Observational study of gene-disease association. (HuGE Navigator)
12148086 polymorphism and its relation to type 2 diabetes mellitus in the Czech population
12145797 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12140659 Observational study of gene-disease association. (HuGE Navigator)
12117686 Observational study of gene-disease association. (HuGE Navigator)
12098643 Observational study of gene-disease association. (HuGE Navigator)
12098643 possession of the HFE gene 282Tyr allele may offer some protection against the development of Parkinson Disease.
12085358 Observational study of gene-disease association. (HuGE Navigator)
12085358 HFE mutations do not confer an additional risk of hepatic fibrosis in patients with nonalcoholic steatohepatitis
12077102 Observational study of gene-disease association. (HuGE Navigator)
12064915 The tighter association of the -467 polymorphism with the C282Y mutation is consistent with other data that suggest that the C282Y mutation has occurred relatively recently and that the H63D mutation is considerably older.
12059121 Observational study of gene-disease association. (HuGE Navigator)
12059121 Individuals with mutations in the HFE gene show very few hemochromatosis-related symptoms.
12045778 Observational study of gene-disease association. (HuGE Navigator)
12045778 Long term survival is excellent in C282Y homozygotes for the C282Y mutation of the hemochromatosis gene diagnosed and treated before the development of cirrhosis and diabetes
12036461 Observational study of gene-disease association. (HuGE Navigator)
12010659 Observational study of genotype prevalence. (HuGE Navigator)
12003382 Observational study of gene-disease association. (HuGE Navigator)
12002748 REVIEW:Characteristics of the C282Y mutation in childhood ALL, in contrast to other cancers, is male-specific, lacks a gene-dosage effect, and exhibits associations suggesting the involvement of another HLA-linked gene in leukemia susceptibility.
11960577 Observational study of genetic testing. (HuGE Navigator)
11960574 Observational study of gene-disease association. (HuGE Navigator)
11953685 Observational study of gene-disease association. (HuGE Navigator)
11943417 Observational study of gene-disease association. (HuGE Navigator)
11943417 Frequency of the S65C mutation of HFE and iron overload in subjects heterozygous for C282Y.
11940510 results suggest that wild-type HFE negatively modulates the endocytic uptake of transferrin
11939483 Observational study of genetic testing. (HuGE Navigator)
11938026 Observational study of gene-disease association. (HuGE Navigator)
11929045 Observational study of gene-disease association. (HuGE Navigator)
11903355 Observational study of genotype prevalence. (HuGE Navigator)
11903355 Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain).
11903354 A previously undescribed nonsense mutation of the HFE gene
11901060 Observational study of gene-disease association. (HuGE Navigator)
11887210 Observational study of genotype prevalence and gene-gene interaction. (HuGE Navigator)
11886966 Observational study of gene-disease association. (HuGE Navigator)
11886425 Observational study of gene-disease association. (HuGE Navigator)
11875012 Observational study of genotype prevalence. (HuGE Navigator)
11874997 Observational study of gene-disease association. (HuGE Navigator)
11869934 Observational study of gene-disease association. (HuGE Navigator)
11869934 HFE gene implicated in this disorder has been identified on chromosome 6. the most prevalent mutation is a point mutation(histidine to aspartic acid)in iron overload has been controversial.
11857056 Observational study of gene-disease association. (HuGE Navigator)
11857056 Association between MHC class I gene HFE polymorphisms and longevity
11855561 Observational study of genotype prevalence. (HuGE Navigator)
11840200 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
11836162 Observational study of genotype prevalence. (HuGE Navigator)
11812557 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11809727 genotype and allele frequencies between neonates and referred patients for HFE molecular analysis
11804665 Observational study of gene-disease association. (HuGE Navigator)
11800564 mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites
11788568 Observational study of gene-disease association. (HuGE Navigator)
11783942 Observational study of gene-disease association. (HuGE Navigator)
11781701 Observational study of genotype prevalence. (HuGE Navigator)
11774187 Observational study of genetic testing. (HuGE Navigator)
11763282 Observational study of gene-disease association. (HuGE Navigator)
11738096 Observational study of gene-disease association. (HuGE Navigator)
11730630 Observational study of genetic testing. (HuGE Navigator)
11722599 Observational study of gene-disease association. (HuGE Navigator)
11700156 Observational study of gene-disease association. (HuGE Navigator)
11686223 Observational study of genetic testing. (HuGE Navigator)
11680538 Observational study of genotype prevalence. (HuGE Navigator)
11673657 Observational study of genotype prevalence. (HuGE Navigator)
11579943 Observational study of gene-disease association. (HuGE Navigator)
11564085 Observational study of genotype prevalence. (HuGE Navigator)
11545759 Observational study of gene-disease association. (HuGE Navigator)
11529872 Observational study of gene-disease association. (HuGE Navigator)
11500066 Meta-analysis of genotype prevalence. (HuGE Navigator)
11500061 Observational study of gene-environment interaction. (HuGE Navigator)
11499833 Observational study of gene-disease association. (HuGE Navigator)
11495086 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11488107 Observational study of gene-disease association. (HuGE Navigator)
11479183 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, genetic testing, and healthcare-related. (HuGE Navigator)
11478530 Observational study of genotype prevalence. (HuGE Navigator)
11474212 Observational study of genotype prevalence. (HuGE Navigator)
11469076 Observational study of gene-disease association. (HuGE Navigator)
11454185 Observational study of gene-disease association. (HuGE Navigator)
11446670 The Ala176Val mutation may have a possible role on the cause of hemochromatosis in a Japanese case
11445256 Observational study of gene-disease association. (HuGE Navigator)
11436126 Observational study of genotype prevalence. (HuGE Navigator)
11423500 Observational study of gene-disease association. (HuGE Navigator)
11399207 Observational study of gene-disease association. (HuGE Navigator)
11394651 Observational study of genotype prevalence. (HuGE Navigator)
11386022 Observational study of genotype prevalence. (HuGE Navigator)
11386022 871 healthy unrelated subjects in Poland were collected to assess the relevant frequencies. Each subject was genotyped for the C282Y and H63D mutations using a PCR-based protocol
11380589 Observational study of gene-disease association. (HuGE Navigator)
11358395 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11332643 Observational study of genotype prevalence. (HuGE Navigator)
11325323 Observational study of genotype prevalence. (HuGE Navigator)
11260010 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11257277 Observational study of genotype prevalence and gene-environment interaction. (HuGE Navigator)
11242801 Observational study of genetic testing. (HuGE Navigator)
11199371 Observational study of gene-disease association. (HuGE Navigator)
11168438 Observational study of gene-disease association. (HuGE Navigator)
11159767 Observational study of gene-disease association. (HuGE Navigator)
11151887 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11114141 Observational study of gene-disease association. (HuGE Navigator)
11108765 Observational study of gene-disease association. (HuGE Navigator)
11096344 Observational study of gene-disease association. (HuGE Navigator)
11079015 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11057879 Observational study of gene-disease association. (HuGE Navigator)
11051367 Observational study of gene-disease association. (HuGE Navigator)
11040018 Observational study of gene-disease association. (HuGE Navigator)
9869618 REVIEW: C282Y mutant gene product failed to associate with 2-microglobulin and significantly reduced cell surface expression of the HFE-2m complex, thereby affecting the interaction with TfR and its interaction with transferrin.

AA Sequence

MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP      1 - 70
RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGY     71 - 140
DGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLV    141 - 210
KVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY    211 - 280
TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE      281 - 348
//

Text Mined References (859)

PMID Year Title
26852655 2016 Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
26725908 2016 Iron and the liver.
26535689 2015 Implicating the H63D polymorphism in the HFE gene in increased incidence of solid cancers: a meta-analysis.
26501199 2015 Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
26456104 2015 HFE gene: Structure, function, mutations, and associated iron abnormalities.
26365338 2015 Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
26281176 2015 [ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE].
26174855 2015 HFE p.H63D polymorphism does not influence ALS phenotype and survival.
26174684 2015 Intragenic haplotype analysis of common HFE mutations in the Portuguese population.
26107216 2015 Meta-Analysis of the Association between H63D and C282Y Polymorphisms in HFE and Cancer Risk.
26054392 2015 Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption.
25981872 2015 Maternal hemochromatosis gene H63D single-nucleotide polymorphism and lead levels of placental tissue, maternal and umbilical cord blood.
25963508 2015 The relationship between selected VDR, HFE and ALAD gene polymorphisms and several basic toxicological parameters among persons occupationally exposed to lead.
25955080 2015 Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.
25880808 2015 Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of HFE as a negative regulator of CD8+ T-lymphocyte activation and differentiation in vivo.
25864213 Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country.
25863172 2015 The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's disease: A meta-analysis.
25854174 2015 Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.
25850353 2015 Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis.
25700349 2015 T lymphocyte-derived TNF and IFN-? repress HFE expression in cancer cells.
25687342 2015 The Study of HFE Genotypes and Its Expression Effect on Iron Status of Iranian Haemochromatosis, Iron Deficiency Anemia Patients, Iron-Taker and Non Iron-Taker Controls.
25654085 2015 HFE genotyping in patients with elevated serum iron indices and liver diseases.
25634189 2015 Genetic variant coding for iron regulatory protein HFE contributes to hypertension, the TAMRISK study.
25504993 2015 HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.
25491948 2015 HFE polymorphisms affect survival of brain tumor patients.
25486930 2015 Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
25442240 2015 Metabolic alterations, HFE gene mutations and atherogenic lipoprotein modifications in patients with primary iron overload.
25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
25314357 2014 Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study.
25311314 2015 Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study.
25293352 2015 Modification of the association between lead exposure and amyotrophic lateral sclerosis by iron and oxidative stress related gene polymorphisms.
25287020 2014 Maternal iron metabolism gene variants modify umbilical cord blood lead levels by gene-environment interaction: a birth cohort study.
25284364 2015 Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
25283820 2014 H63D HFE genotype accelerates disease progression in animal models of amyotrophic lateral sclerosis.
25231511 2015 Effects of established blood pressure loci on blood pressure values and hypertension risk in an Algerian population sample.
25224454 2015 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans.
25085015 2014 Examination of HFE associations with childhood leukemia risk and extension to other iron regulatory genes.
25015054 2014 The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene.
25015053 2015 HFE-related hemochromatosis risk mutations in Latvian population.
24988074 2014 The effect of the hemochromatosis (HFE) genotype on lead load and iron metabolism among lead smelter workers.
24920245 2014 A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.
24904118 2014 HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression.
24798971 2014 Plasma ferritin levels, HFE polymorphisms, and risk of pancreatic cancer among Chinese Han population.
24785111 2014 MTHFR and HFE, but not preproghrelin and LBP, polymorphisms as risk factors for all-cause end-stage renal disease development.
24729993 2014 Iron overload is rare in patients homozygous for the H63D mutation.
24643698 2014 The WT hemochromatosis protein HFE inhibits CD8? T-lymphocyte activation.
24604426 2014 Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.
24556216 2014 Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
24533143 2014 C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells.
24439478 2014 H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
24433479 2014 Variations in CCR5, but not HFE, ELMO1, or SLC12A3, are associated with susceptibility to kidney disease in north Indian individuals with type 2 diabetes.
24401005 2014 Age-dependent ferritin elevations and HFE C282Y mutation as risk factors for symptomatic knee osteoarthritis in males: a longitudinal cohort study.
24390816 2014 HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
24339903 2013 Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.
24331117 2014 Hemochromatosis and the heart--heavier than iron?
24184271 2013 Regulation of HFE expression by poly(ADP-ribose) polymerase-1 (PARP1) through an inverted repeat DNA sequence in the distal promoter.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24087894 2013 The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
24081379 2014 Risk factors for development of dementia in a unique six-year cohort study. I. An exploratory, pilot study of involvement of the E4 allele of apolipoprotein E, mutations of the hemochromatosis-HFE gene, type 2 diabetes, and stroke.
24068123 Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
23968943 2013 Meta-analysis on the association between the TF gene rs1049296 and AD.
23953397 2014 Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.
23862168 2013 HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L.
23813494 2013 H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxide dismutase-1 expression in amyotrophic lateral sclerosis patients.
23794717 2013 Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study.
23794343 2013 The prevalence of primary hereditary hemochromatosis in central Anatolia.
23793422 Correlation of hemochromatosis gene mutations and cardiovascular disease in hemodialysis patients.
23792061 2013 Meta-analyses of HFE variants in coronary heart disease.
23681799 2013 C282Y polymorphism in the HFE gene is associated with risk of breast cancer.
23657305 Hfe mutations and iron overload in patients with alcoholic liver disease.
23553028 2013 HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis.
23512844 2013 Telomere length and elevated iron: the influence of phenotype and HFE genotype.
23468552 2013 Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.
23446634 2013 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
23413885 2013 Modification by hemochromatosis gene polymorphisms of the association between traffic-related air pollution and cognition in older men: a cohort study.
23389292 2013 Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.
23340149 Regional differences of HFE (C282Y, H63D) allele frequencies in the Netherlands A model case illustrating the significance of genographics and prehistorical population migration.
23289212 2012 [CCR5, CCR2, apoe, p53, ITGB3 and HFE gene polymorphism in Western Siberia long-livers].
23281741 2013 Cancer risk in HFE C282Y homozygotes: results from the HUNT 2 study.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
23188073 2013 High prevalence of fibromyalgia in patients with HFE-related hereditary hemochromatosis.
23178241 2013 Diagnostic utility of HFE variants in Spanish patients: association with HLA alleles and role in susceptibility to acute lymphoblastic leukemia.
23154866 2013 Molecular basis of primary iron overload in India and the role of serum-derived factors in hepcidin regulation.
23063643 2013 H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.
23018356 2012 Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
22942096 2012 H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.
22908207 2012 Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-analysis.
22890139 2012 Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.
22842326 2010 Prevalence of histone family E1 (HFE) mutant alleles in a Tamilian cohort from Vellore, South India.
22728873 2012 The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.
22720276 2012 Dietary iron intake and serum ferritin concentration in 213 patients homozygous for the HFEC282Y hemochromatosis mutation.
22624560 2012 The functional significance of E277K and V295A HFE mutations.
22611049 2012 Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.
22565179 [Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].
22530027 2012 Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.
22504868 2012 An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population.
22481680 Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin.
22425014 2012 Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.
22362121 2012 The prognostic role of hemochromatosis H63D allele in allogeneic hematopoietic stem cell transplantation.
22354660 2012 Unique frequencies of HFE gene variants in Roma/Gypsies.
22297603 2012 Iron overload and HFE gene mutations in Czech patients with chronic liver diseases.
22232660 2012 Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.
22209421 2012 HFE C282Y homozygosity is associated with an increased risk of total hip replacement for osteoarthritis.
22196777 2012 Incidence of cardiac arrhythmias in asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity.
22183944 2011 Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients.
22183642 2012 Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study.
22145371 2011 [HFE gene polymorphism in the population of Northern Asia].
22122796 2012 Effect of co-inheritance of ?-thalassemia and hemochromatosis mutations on iron overload.
22118647 2012 The impact of HFE mutations on haemoglobin and iron status in individuals experiencing repeated iron loss through blood donation*.
22098612 2012 Iron metabolism and the role of HFE gene polymorphisms in Wilson disease.
22098610 2012 Clinical impact of HFE mutations in Japanese patients with chronic hepatitis C.
22048270 2011 HFE gene polymorphisms and the risk for autism in Egyptian children and impact on the effect of oxidative stress.
22012716 2011 Influence of mutation of the HFE gene on the progression of chronic viral hepatitis B and C in Moroccan patients.
21947086 2012 Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.
21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
21932715 2011 Presence of hemochromatosis-associated mutations in Hispanic patients with iron overload.
21925577 2011 Polymorphisms of hemochromatosis, and alpha-1 antitrypsin genes in Egyptian HCV patients with and without hepatocellular carcinoma.
21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
21822737 2011 Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population.
21796974 2011 Role of HFE gene mutations on developing iron overload in beta-thalassaemia carriers in Egypt.
21785125 2011 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
21736562 2011 Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.
21701828 2012 Association between HFE polymorphisms and susceptibility to Alzheimer's disease: a meta-analysis of 22 studies including 4,365 cases and 8,652 controls.
21701160 2011 Hemochromatosis, HFE C282Y homozygosity, and polycystic ovary syndrome: report of two cases and possible effects of androgens and hepcidin.
21696736 2011 Plasma ferritin levels, genetic variations in HFE gene, and coronary heart disease in Chinese: a case-control study.
21674831 2011 Prevalence of 845G>A HFE mutation in Slavic populations: an east-west linear gradient in South Slavs.
21669570 2011 Iron overload and HFE gene mutations in Polish patients with liver cirrhosis.
21665994 2011 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
21643746 2012 HFE mutations and transferrin C1/C2 polymorphism among Croatian patients with schizophrenia and schizoaffective disorder.
21625954 2011 HFE, MTHFR, and FGFR4 genes polymorphisms and breast cancer in Brazilian women.
21569394 2011 A child with hyperferritinemia: case report.
21553046 2012 Should we screen for hereditary hemochromatosis in healthy Lebanese: a pilot study.
21483845 2011 Genome-wide association study identifies genetic loci associated with iron deficiency.
21426887 2011 C282Y hemochromatosis gene mutation and iron parameters in dialysis patients.
21412944 2011 SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.
21411349 2011 Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
21407826 2011 Differential HFE gene expression is regulated by alternative splicing in human tissues.
21384276 2011 Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy.
21354231 2011 Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis.
21349849 2011 Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.
21332426 2011 HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain.
21243428 2011 Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
21228038 2011 Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
21190189 2011 HFE polymorphisms influence the response to chemotherapeutic agents via induction of p16INK4A.
21173098 2011 A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis.
21165552 2011 Detection of soluble HFE associated with soluble transferrin receptor in human serum.
21149283 2011 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
21145803 2011 Association of the hemochromatosis gene with pazopanib-induced transaminase elevation in renal cell carcinoma.
21082925 2008 Clinical penetrance of C282Y homozygous HFE hemochromatosis.
21067572 2010 Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy.
21039223 2010 Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.
20974500 2012 Clinical and genetic determinants of anthracycline-induced cardiac iron accumulation.
20957336 CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda.
20954257 2011 Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load.
20950210 2011 Low prevalence of hereditary hemochromatosis in multiethnic populations in Northern Norway.
20927387 2010 A genome-wide association study of red blood cell traits using the electronic medical record.
20858683 2010 Common variants at 10 genomic loci influence hemoglobin A?(C) levels via glycemic and nonglycemic pathways.
20843714 2010 HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?
20817350 2012 Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project.
20814896 2010 A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis.
20813792 2010 Serum iron parameters, HFE C282Y genotype, and cognitive performance in older adults: results from the FACIT study.
20805500 2010 Ubiquitination of lysine-331 by Kaposi's sarcoma-associated herpesvirus protein K5 targets HFE for lysosomal degradation.
20800508 2011 Hemochromatosis genotypes and risk of iron overload--a meta-analysis.
20739079 2010 Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients with non-alcoholic fatty liver disease.
20734416 2010 The H63D HFE gene variant promotes activation of the intrinsic apoptotic pathway via mitochondria dysfunction following ?-amyloid peptide exposure.
20722701 2010 Longer survival associated with HLA-A*03, B*14 among 212 hemochromatosis probands with HFE C282Y homozygosity and HLA-A and -B typing and haplotyping.
20714725 2011 Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20675164 Iron metabolism in macrophages from HFE hemochromatosis patients.
20673159 2011 Do genetic variations in antioxidant enzymes influence the course of hereditary hemochromatosis?
20670400 2010 Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.
20669231 2011 Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis.
20659343 2010 HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.
20642794 2011 H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China.
20642366 2010 The ethnospecific distribution of the HFE haplotypes for IVS2(+4)t/c, IVS4(-44)t/c, and IVS5(-47)g/a in populations of Russia and possible effects of these single-nucleotide polymorphisms in splicing.
20640879 2010 HFE gene mutations increase the risk of coronary heart disease in women.
20634490 2010 Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20618438 2010 N-glycosylation is important for the correct intracellular localization of HFE and its ability to decrease cell surface transferrin binding.
20607553 2010 Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
20594259 2010 Significance of H63D homozygosity in a Basque population with hemochromatosis.
20587610 2010 Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.
20586792 2011 HFE gene polymorphisms and severity in Portuguese patients with multiple sclerosis.
20583211 2010 HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.
20575041 2010 Hyperferritinemia and iron overload in type 1 Gaucher disease.
20563578 2010 HFE genotype and iron metabolism in Chinese patients with myelodysplastic syndromes and aplastic anemia.
20560808 2010 Ferritin concentrations in synovial fluid are higher in osteoarthritis patients with HFE gene mutations (C282Y or H63D).
20555268 2010 The H63D genetic variant of the HFE gene is independently associated with the virological response to interferon and ribavirin therapy in chronic hepatitis C.
20503453 2010 Nonalcoholic fatty liver disease and HFE gene mutations: a Polish study.
20485444 2010 Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
20478760 2010 HFE H63D polymorphism as a modifier of the effect of cumulative lead exposure on pulse pressure: the Normative Aging Study.
20464957 [The polymorphism of catechol-O-methyltransferase (COMT) and hemochromatosis (HFE) genes in the radiocontaminated regions residents with different chromosome aberration frequency].
20447705 2011 Iron stores and HFE genotypes are not related to increased risk of first-time myocardial infarction: a prospective nested case-referent study.
20437058 2010 The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.
20424537 2010 HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern Poland.
20400082 2010 Hemochromatosis (HFE) genotype and atherosclerosis: Increased susceptibility to iron-induced vascular damage in C282Y carriers?
20392616 2011 Serum ferritin levels are associated with vascular damage in patients with nonalcoholic fatty liver disease.
20345568 2010 Blood donors with hereditary hemochromatosis.
20337854 2010 Haemochromatosis genotype and iron overload: association with hypertension and left ventricular hypertrophy.
20218273 2010 Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics.
20216079 2010 An epidemiologic study on the incidence and significance of HFE mutations in a Korean cohort with nonalcoholic fatty liver disease.
20208481 2010 HFE mutations in alpha-1-antitrypsin deficiency: an examination of cirrhotic explants.
20199637 2010 Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations.
20196837 2010 Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis.
20194081 2010 Traffic-related air pollution and QT interval: modification by diabetes, obesity, and oxidative stress gene polymorphisms in the normative aging study.
20193033 2010 Highly sensitivity adhesion molecules detection in hereditary haemochromatosis patients reveals altered expression.
20190684 2010 The role of iron overload and HFE gene mutations in the era of pegylated interferon and ribavirin treatment of chronic hepatitis C.
20178892 2010 Tumor necrosis factor-alpha promoter variants and iron phenotypes in 785 hemochromatosis and iron overload screening (HEIRS) study participants.
20164577 2010 Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men.
20160468 2010 The C282Y polymorphism of the hereditary hemochromatosis gene is associated with increased sex hormone-binding globulin and normal testosterone levels in men.
20145272 2010 The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
20117027 2010 Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.
20107990 2010 Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain.
20101754 2010 Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors.
20099304 2010 HFE C282Y homozygotes are at increased risk of breast and colorectal cancer.
20097100 Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications.
20084012 2010 Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.
20073670 2010 Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation.
20060900 2010 Prolyl-peptidyl isomerase, Pin1, phosphorylation is compromised in association with the expression of the HFE polymorphic allele, H63D.
20031565 2009 HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study.
20031541 2008 Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects.
20029940 2010 Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.
20027482 2010 HFE gene mutations and iron status of Brazilian blood donors.
20019189 2010 Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis.
20008199 2009 Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
20007136 2010 Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.
19960042 2009 HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype.
19958990 2009 DNA-array of gene variants in venous leg ulcers: detection of prognostic indicators.
19948245 2010 Associations among behavior-related susceptibility factors in porphyria cutanea tarda.
19931264 2010 HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19893773 2009 Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study.
19884647 2010 Air pollution, obesity, genes and cellular adhesion molecules.
19879168 2010 A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.
19876870 2009 Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil.
19874572 2010 Effect of iron supplementation on iron status during the first week after blood donation.
19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
19853236 2009 Sequence variants in three loci influence monocyte counts and erythrocyte volume.
19852572 2009 Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population.
19822954 2009 Frequency of the hemochromatosis gene (HFE) variants in a Jordanian Arab population and in diabetics from the same region.
19820699 2009 Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
19820015 2009 Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia.
19819738 2010 Stoichiometries of transferrin receptors 1 and 2 in human liver.
19806355 2010 An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia.
19799358 [The association of TCR-mutant cells with DNA polymorphism in women residing in radiation polluted regions of the Russian Federation].
19787796 2009 HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.
19775775 2011 Expression of the HFE allelic variant H63D in SH-SY5Y cells affects tau phosphorylation at serine residues.
19759876 2009 Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.
19747287 2009 Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors.
19734422 2009 Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
19732172 2009 Hemochromatosis gene mutations and treatment of anemia in patients on hemodialysis.
19731820 2009 [Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia].
19715939 Frequency and influence of hemochromatosis gene mutations in kidney transplant recipients with or without hepatitis C virus infection.
19711434 2009 Hereditary hemochromatosis gene (HFE) variants are associated with birth weight and childhood leukemia risk.
19706067 2010 Relationships of serum free thyroxine and erythrocyte measures in euthyroid HFE C282Y homozygotes and control subjects: the HEIRS study.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19681031 2009 Frequency of the S65C mutation in the hemochromatosis gene in Brazil.
19673882 2009 A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
19656448 2009 HFE gene mutations in patients with altered iron metabolism in Argentina.
19640812 2010 HFE gene mutations and Wilson's disease in Sardinia.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19602897 2009 Hepatic iron, serum ferritin, HFE mutation, and hepatic fibrosis in chronic hepatitis C.
19554541 2009 HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
19541813 2009 HFE mutations modulate the effect of iron on serum hepcidin-25 in chronic hemodialysis patients.
19515364 2009 Genetic background of lead and mercury metabolism in a group of medical students in Austria.
19500086 2009 High-sensitive radioimmunoassay for human serum hepcidin.
19487139 In vitro binding of HFE to the cation-independent mannose-6 phosphate receptor.
19481774 2009 Genetic factors in mother-to-child transmission of HCV infection.
19433916 2009 Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania.
19429178 2009 CAT53 and HFE alleles in Alzheimer's disease: a putative protective role of the C282Y HFE mutation.
19422651 2010 Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing.
19420105 2009 A candidate gene approach to genetic prognostic factors of IgA nephropathy--a result of Polymorphism REsearch to DIstinguish genetic factors Contributing To progression of IgA Nephropathy (PREDICT-IgAN).
19384175 2009 Marked iron in liver explants in the absence of major hereditary hemochromatosis gene defects: a risk factor for cardiac failure.
19380292 2009 Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
19375516 2009 Hemochromatosis: as a conformational disorder.
19359997 2009 Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes.
19291797 2009 Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.
19271219 2009 Extrinsic factors modifying expressivity of the HFE variant C282Y, H63D, S65C phenotypes in 1,294 Danish men.
19267193 2010 Serum ferritin is a clinical biomarker in Japanese patients with nonalcoholic steatohepatitis (NASH) independent of HFE gene mutation.
19264516 2009 Confirmation of two major polyarticular osteoarthritis (POA) phenotypes--differentiation on the basis of joint topography.
19258483 2009 HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease.
19254567 2009 Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.
19237423 2009 Is there an optimum endurance polygenic profile?
19228389 2009 Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1.
19222337 2008 [Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain].
19214511 2009 Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19165391 2009 Iron metabolism genes, low-level lead exposure, and QT interval.
19159930 2009 Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
19115475 2009 Iron homeostasis and H63D mutations in alcoholics with and without liver disease.
19084217 2009 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
19059216 2009 Knockdown of beta2-microglobulin perturbs the subcellular distribution of HFE and hepcidin.
19030706 2008 Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.
19018338 2008 Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening.
19008010 2009 Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily Study.
19002551 2009 Haemochromatosis gene frequency in a control and diabetic Irish population.
19001803 2009 Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
18987350 2009 A CSF biomarker panel for identification of patients with amyotrophic lateral sclerosis.
18848943 2008 The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis.
18846434 2009 Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility.
18842428 Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population.
18820912 2009 Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?
18810584 2008 HFE mutations in heart disease.
18809758 2008 Down-regulation of hepcidin in porphyria cutanea tarda.
18795173 2008 Variants in iron metabolism genes predict higher blood lead levels in young children.
18762941 2009 Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.
18705322 Could iron deposits in hepatocytes serve as a prognostic marker of HFE gene mutations?
18689356 2008 Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.
18683048 2009 HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18675463 2008 Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis.
18665827 2008 Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study.
18657084 2008 Behavioral, biochemical, and genetic analysis of iron metabolism in high-intensity blood donors.
18633618 2009 Analysis of C282Y and H63D mutations of the hemochromatosis gene (HFE) in blood donors from Córdoba, Argentina.
18593631 2008 HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study.
18566337 2008 Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study.
18565609 2008 Declining prevalence of diabetes mellitus in hereditary haemochromatosis--the result of earlier diagnosis.
18565178 2008 High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic.
18542962 2008 Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men.
18525129 2008 Involvement of ApoE E4 and H63D in sporadic Alzheimer's disease in a folate-supplemented Ontario population.
18524764 2008 The hereditary hemochromatosis protein, HFE, inhibits iron uptake via down-regulation of Zip14 in HepG2 cells.
18521456 2008 Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.
18500222 2008 High prevalence of HFE gene mutations in hemodialysis patients.
18470614 2008 Hemochromatosis gene status as a risk factor for Barrett's esophagus.
18462792 2009 Hemochromatosis gene mutation--could it be a disease marker for myelodysplasia?
18460494 2008 Blood loss is a stronger predictor of iron status in men than C282Y heterozygosity or diet.
18452683 2008 Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations.
18429050 2008 Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population.
18419350 2008 Hemochromatosis gene polymorphisms, mitochondrial haplogroups, and peripheral lipoatrophy during antiretroviral therapy.
18403938 2008 The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.
18395717 2009 The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men.
18363869 2008 HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden.
18353247 2008 HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron.
18327584 2008 Association between HFE 187 C>G (H63D) mutation and early-onset familial Alzheimer's disease PSEN-1 839A>C (E280A) mutation.
18325820 2008 HFE gene mutations in a population of Italian Parkinson's disease patients.
18317757 2008 Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis.
18300942 2008 Genetic predisposition to Parkinson's disease: CYP2D6 and HFE in the Faroe Islands.
18289891 Prevalence of H63D, S65C and C282Y mutations of the HFE gene in 1120 voluntary blood donors from Antioquia region of northwest Colombia.
18284459 2008 Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis.
18276042 2008 Post-prandial iron absorption in humans: comparison between HFE genotypes and iron deficiency anaemia.
18273820 2008 Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region.
18263976 2008 Frequency of mutations related to hereditary haemochromatosis in northwestern Poland.
18201677 2008 Bivariate mixture modeling of transferrin saturation and serum ferritin concentration in Asians, African Americans, Hispanics, and whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
18199861 2008 Iron-overload-related disease in HFE hereditary hemochromatosis.
18194242 2008 Lack of association of iron metabolism and Dupuytren's disease.
18182079 2008 Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.
18164971 2008 Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population.
18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
18079565 2007 Morbidity and mortality in first-degree relatives of C282Y homozygous probands with clinically detected haemochromatosis compared with the general population: the HEmochromatosis FAmily Study (HEFAS).
18073584 2007 Health-related quality of life in a racially diverse population screened for hemochromatosis: results from the Hemochromatosis and Iron Overload Screening (HEIRS) study.
18061976 2008 The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload.
18061182 2008 Liver iron, HFE gene mutations, and hepatocellular carcinoma occurrence in patients with cirrhosis.
18054440 2008 Defective release of Hepcidin not defective synthesis is the primary pathogenic mechanism in HFE-Haemochromatosis.
18042412 A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.
18036208 2007 Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
18025780 2008 HFE genotype influences erythropoiesis support requirement in hemodialysis patients: a prospective study.
18005180 2008 Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia.
17976429 2007 Biological variability of transferrin saturation and unsaturated iron-binding capacity.
17973580 2007 [The H63D mutation in the HFE gene is related to the risk of hepatocellular carcinoma].
17959863 2008 Bloodletting ameliorates insulin sensitivity and secretion in parallel to reducing liver iron in carriers of HFE gene mutations.
17956864 2007 HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions.
17949288 2007 HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
17924859 2007 The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype?
17916170 2008 The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations.
17895769 2007 No evidence of relation between peripheral neuropathy and presence of hemochromatosis gene mutations in HIV-1-positive patients.
17878720 2007 Iron stores and HFE genotypes are not related to increased risk of ischemic stroke. A prospective nested case-referent study.
17847004 2007 Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
17828789 2007 Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls.
17767550 2007 Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis.
17729389 2007 HFE gene in primary and secondary hepatic iron overload.
17724144 2007 Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis.
17722428 2007 Prevalence of hemochromatosis in the Puerto Rico veteran population.
17718867 2007 Frequency of hemochromatosis gene (HFE) mutations in Corsica (France).
17710673 2007 Penetrance of the C28Y/C282Y genotype of the HFE gene.
17687449 2007 Modifying effects of the HFE polymorphisms on the association between lead burden and cognitive decline.
17680648 2007 HFE C282Y mutations are associated with advanced hepatic fibrosis in Caucasians with nonalcoholic steatohepatitis.
17661915 2007 Analysis of the HFE gene (C282Y, H63D and S65C) mutations in a general Chinese Han population.
17661761 2007 An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy.
17654685 2007 Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts.
17650303 2007 Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses.
17637512 2007 H63D mutation of the hemochromatosis gene and serum ferritin levels in Thai thalassemia carriers.
17628213 2009 HFE variants, APOE and Alzheimer's disease: findings from the population-based Rotterdam study.
17626021 2007 Chemical chaperones reduce endoplasmic reticulum stress and prevent mutant HFE aggregate formation.
17598005 2007 Clinical implications of gene polymorphisms in venous leg ulcer: a model in tissue injury and reparative process.
17597476 2007 Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study.
17589946 2007 Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India.
17585191 2007 [The prevalence of peripheral iron overload and the presence of HFE gene (H63D) mutation among the Korean patients with nonalcoholic fatty liver disease].
17573946 2007 HFE C282Y gene variant is a risk factor for the progression to decompensated liver disease in chronic viral hepatitis C subjects in the Czech population.
17565641 2007 Hemochromatosis gene mutations, liver function tests and iron status in alcohol-dependent patients admitted for detoxification.
17543888 2007 The hereditary hemochromatosis protein HFE and its chaperone beta2-microglobulin localise predominantly to the endosomal-recycling compartment.
17525682 2007 Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform.
17474269 2007 HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions.
17420932 2007 An unusual case of hemochromatosis in an African-American man: case report and review of the literature.
17410459 2007 HFE gene mutation, chronic liver disease, and iron overload In Turkey.
17401564 2007 Status of HFE mutation in thalassemia syndromes in north India.
17389307 2007 Hereditary hemochromatosis genotypes and risk of ischemic stroke.
17362299 2007 Serum measures of iron status and HFE gene mutations in patients with hepatitis B virus infection.
17313717 2007 Serum prohepcidin concentration: no association with iron absorption in healthy men; and no relationship with iron status in men carrying HFE mutations, hereditary haemochromatosis patients undergoing phlebotomy treatment, or pregnant women.
17308297 2007 HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin.
17303462 2006 [HFE gene mutations in Tunisian major beta-Thalassemia and iron overload].
17299255 2007 HFE gene mutations and oxidative stress influence serum ferritin, associated with vascular damage, in hemodialysis patients.
17298224 2006 Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
17297430 Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City.
17284543 2007 The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis.
17279416 2007 Incidence of the HFE gene mutations in a cohort of non-Spanish origin neonates in Madrid.
17240320 2007 Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload.
17235517 2007 Genetic relationship between Murcia Region (SE Spain) and other populations in the Iberian Peninsula and Mediterranean area with respect to HFE gene mutations distribution.
17228846 [Heterozygosis H63D in patients with steatohepatitis and chronic hepatitis C].
17212677 2007 Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.
17210810 2007 The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population.
17194693 2007 Consequences of expressing mutants of the hemochromatosis gene (HFE) into a human neuronal cell line lacking endogenous HFE.
17160266 2006 HFE gene mutations in Brazilian thalassemic patients.
17160239 Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis.
17145987 2006 HFE genotype, particulate air pollution, and heart rate variability: a gene-environment interaction.
17137171 2006 [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients].
17135308 2007 Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.
17116317 2007 Susceptibility groups for Alzheimer's disease (OPTIMA cohort): integration of gene variants and biochemical factors.
17108759 2006 Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study.
17107905 2006 HFE gene mutations in patients with acute leukemia.
17101320 2006 Roles of iron and HFE mutations on severity and response to therapy during retreatment of advanced chronic hepatitis C.
17079357 2007 Heteroduplex analysis for the three common HFE variants: methodology, reliability and analysis of over 5000 requests for testing.
17067586 2006 Analysis of the hemochromatosis mutations C282Y and H63D in infertile men.
17065702 2006 Mutations in the hereditary hemochromatosis gene are not associated with the increased body iron stores observed in overweight and obese women with polycystic ovary syndrome.
17062032 2006 The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.
17061732 2006 Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
17058523 2006 Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.
17056630 2007 Prevalence of haemochromatosis gene mutations in Parkinson's disease.
17047092 2006 Iron genes, iron load and risk of Alzheimer's disease.
17042772 2007 H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
17013646 2007 Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain.
17011669 2007 Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population.
17006922 2006 Alpha 1-antitrypsin mutations in NAFLD: high prevalence and association with altered iron metabolism but not with liver damage.
17003003 The role of Hemochromatosis C282Y and H63D mutations in the development of type 2 diabetes mellitus in Greece.
17001480 2006 The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome.
16990695 2006 Sporadic porphyria cutanea tarda due to haemochromatosis.
16979952 2006 The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.
16968463 2006 HFE mutations and risk of coronary heart disease in middle-aged women.
16964543 2006 HFE mutations analysis of Turkish patients with nonalcoholic steatohepatitis.
16950433 2006 Influence of gene polymorphisms in ulcer healing process after superficial venous surgery.
16936157 2006 Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study.
16935420 2006 Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
16893896 2006 Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing.
16878186 2006 Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload.
16849282 2006 Prevalence of HFE mutations in California newborns.
16847405 2006 Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy.
16841247 2006 Apical distribution of HFE-beta2-microglobulin is associated with inhibition of apical iron uptake in intestinal epithelia cells.
16838333 2006 Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases.
16824219 2006 Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16802538 2006 HFE mutations in idiopathic dilated cardiomyopathy.
16802007 2006 Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis.
16755236 2006 Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.
16728543 2006 Phenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department.
16678024 2006 The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis.
16672055 2006 Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
16649670 2006 [Analysis of the hemochromatosis gene (HFE) mutations, C282Y and H63D, in the populations of Central Asia].
16638105 2006 Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis.
16615226 The celtic coincidence--the frequency and clinical characterisation of hereditary haemochromatosis in patients with coeliac disease.
16615007 2006 Individuals homozygous for the H63D mutation have significantly elevated iron indexes.
16584391 2006 The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis.
16583477 2006 HFE gene mutations are associated with osteoarthritis in the index or middle finger metacarpophalangeal joints.
16537242 2006 Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.
16520984 2006 Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).
16503999 2006 HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.
16468045 2006 Manifestation of rheumatoid arthritis in a patient with hereditary haemochromatosis.
16454835 2006 HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls.
16451136 2006 Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study.
16433696 2006 Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.
16414021 2006 Haemochromatosis gene (HFE) mutations in viral-associated neoplasia: Linkage to cervical cancer.
16399493 2006 HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women.
16393683 2006 Iron binding saturation and genotypic testing for hereditary hemochromatosis in patients with liver disease.
16364490 2006 Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes.
16337066 2006 [Screening for HFE C282Y mutation at birth?].
16324464 2005 [Hereditary hemochromatosis: phenotypic study in a Spanish population].
16315134 2005 Screening for HFE and iron overload.
16314188 2006 HFE-codon 63/282 (H63D/C282Y) gene variants in Mexican Mestizos are not risk factors for leukemia.
16306377 2005 HFE genetic variability, body iron stores, and the risk of type 2 diabetes in U.S. women.
16285477 2005 Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.
16273299 2005 HFE gene mutations in Polish patients with disturbances of iron metabolism: an initial assessment.
16225403 2005 Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study.
16222171 2005 HFE genotype modifies the influence of heme iron intake on iron status.
16216474 2006 Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers.
16210711 2005 Diet and genetic factors associated with iron status in middle-aged women.
16186539 2005 Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.
16178952 2005 Prevalence of HFE (hemochromatosis) gene mutations in patients with cluster headache.
16174659 2006 Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.
16174459 2005 [Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B].
16157826 2005 Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis.
16140024 Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers.
16138214 2005 Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients.
16123136 2005 Direct recognition by alphabeta cytolytic T cells of Hfe, a MHC class Ib molecule without antigen-presenting function.
16113552 Increased C282Y heterozygosity in gestational diabetes.
16113534 2005 Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.
16105133 2005 Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity.
16103673 2005 Iron stores modulate hepatic hepcidin expression by an HFE-independent pathway.
16102632 2005 Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration.
16055358 Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients.
16047841 2005 [Mutations in the HFE gene in patients with rheumatic diseases].
16043695 2005 HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis.
16039334 2005 Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.
16012706 2005 Do cancer cells selectively mutate HFE to increase their intracellular iron?
16011012 2005 Impact of the introduction of a guideline on the targeted detection of hereditary haemochromatosis.
16003728 2006 Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients.
15995871 2005 Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample.
15991291 2005 Prevalence of HFE mutations and relation to serum iron status in patients with chronic hepatitis C and patients with nonalcoholic fatty liver disease in Taiwan.
15990686 2005 Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction.
15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
15956653 2005 Hemochromatosis gene mutations, body iron stores, dietary iron, and risk of colorectal adenoma in women.
15955425 2005 Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.
15941956 2005 Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.
15941661 2005 TGF-beta1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis.
15929798 2005 Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.
15929796 2005 Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study.
15914210 2005 Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.
15894659 2005 Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.
15894495 Association between heterozygosity for HFE gene mutations and hepatitis viruses in hepatocellular carcinoma.
15885363 2005 Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis.
15880641 2005 Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells.
15863667 2005 Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
15863206 2005 Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.
15858186 2005 Hemochromatosis and iron-overload screening in a racially diverse population.
15840699 2005 HFE cross-talks with the MHC class I antigen presentation pathway.
15834437 2005 The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.
15817857 2005 Iron absorption in male C282Y heterozygotes.
15815212 Hereditary hemochromatosis: population screening based on phenotype in Brazilian blood donors.
15802547 2005 HFE mutations in the pathobiology of hemophilic arthropathy.
15789881 HFE genotyping demonstrates a significant incidence of hemochromatosis in undifferentiated arthritis.
15785438 2004 Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients.
15780041 2005 Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic hepatitis B and C in Taiwan.
15777346 2005 Prevalence of the H63D mutation of the HFE in north India: its presence does not cause iron overload in beta thalassemia trait.
15775751 2005 HFE gene mutations in susceptibility to childhood leukemia: HuGE review.
15763983 Analysis of hemochromatosis gene mutations in 52 consecutive patients with polycythemia vera.
15740492 2005 Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.
15727249 2004 Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.
15710569 2005 Changes in erythropoiesis in hereditary hemochromatosis are not mediated by HFE expression in nucleated red cells.
15698609 2005 Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.
15684872 2004 Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain.
15673318 2005 Iron overload in kidney transplants: prospective analysis of biochemical and genetic markers.
15668853 2005 Hemochromatosis mutations in Iranians with hepatitis B virus infection.
15668490 2005 Hemochromatosis gene mutations and distal adenomatous colorectal polyps.
15654232 2005 A 6-year survey of HFE gene test for hemochromatosis diagnosis.
15643457 2005 [Elevated serum ferritin and hemochromatosis in general practice].
15642540 2005 Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy.
15637751 2005 Nonalcoholic steatohepatitis in Asian Indians is neither associated with iron overload nor with HFE gene mutations.
15610558 2004 Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.
15607698 HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload.
15581829 Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population.
15570296 2004 Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.
15566515 2004 Hepatic iron loading in patients with compound heterozygous HFE mutations.
15546588 2004 Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences.
15538648 2004 The role of HFE mutations on iron metabolism in beta-thalassemia carriers.
15531451 2004 Hemochromatosis gene mutations and iron metabolism in celiac disease.
15528154 Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.
15517265 2005 Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population.
15503019 2005 Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.
15498100 2004 HLA haplotypes associated with hemochromatosis mutations in the Spanish population.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15483651 2005 Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.
15477198 2004 Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience.
15467009 2004 Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.
15447900 2004 Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.
15389541 2005 Mouse HFE inhibits Tf-uptake and iron accumulation but induces non-transferrin bound iron (NTBI)-uptake in transformed mouse fibroblasts.
15388046 2004 [Genotype and phenotypic expression of hereditary hemochromatosis in Spain].
15377292 2004 Expression of the HFE hemochromatosis gene in a community-based population of elderly women.
15363617 2004 [Haemochromatosis screening in 120 patients complaining with persistant fatigue].
15352740 2004 Curaçao patients with coronary artery disease have a higher prevalence of the HFE C282Y mutation.
15347835 2004 The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.
15338274 2004 Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
15319650 2004 Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey.
15304122 2004 Liver iron deposits in hepatitis B patients: association with severity of liver disease but not with hemochromatosis gene mutations.
15304010 2004 Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification.
15302000 2004 Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients.
15293136 2004 Clinical characteristics and prevalence of GB virus C, SEN virus, and HFE gene mutation in Japanese patients with nonalcoholic steatohepatitis.
15287851 2004 Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C.
15280838 2004 Association of porphyria cutanea tarda with hereditary hemochromatosis.
15273174 2004 Mutations in the hereditary haemochromatosis gene HFE in professional endurance athletes.
15266614 2004 Does bilirubin protect against hemochromatosis gene (HFE) related mortality?
15259508 2004 Risk factors for hepatocellular carcinoma in patients with cirrhosis.
15223008 DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.
15222129 2004 Haemochromatosis-causing mutations C282Y and H63D are not risk factors for coronary artery disease in Caucasians with type 2 diabetes.
15182337 2004 Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder.
15175819 2004 Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease.
15151632 2004 HFE gene and hemochromatosis.
15141324 2004 Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes.
15136693 2004 HFE mutations are not strongly associated with sporadic ALS.
15121519 2004 Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study.
15101996 2004 Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.
15099342 2004 Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.
15075083 2004 The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients.
15070663 2004 Hemochromatosis mutations in the general population: iron overload progression rate.
15061375 2004 High prevalence of non-HFE gene-associated haemochromatosis in patients from southern It