Property Summary

NCBI Gene PubMed Count 308
PubMed Score 654.59
PubTator Score 619.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytoma -1.100 2.6e-02
atypical teratoid / rhabdoid tumor -1.100 5.3e-05
glioblastoma -1.300 7.0e-07
medulloblastoma, large-cell -1.200 1.1e-04
juvenile dermatomyositis -1.238 4.9e-11
Amyotrophic Lateral Sclerosis -1.087 1.3e-05
pediatric high grade glioma -1.100 3.3e-05
group 4 medulloblastoma -1.100 8.2e-04
aldosterone-producing adenoma 5.767 2.9e-06
ovarian cancer -1.400 1.8e-07

Gene RIF (339)

PMID Text
26765578 Adrenal tumors in patients with primary aldosteronism can demonstrate clear heterogeneity in cytochrome P450 family 11 subfamily B member 2 (CYP11B2) expression and somatic mutations in driver genes for aldosterone production
26686590 Gene polymorphism of CYP11B2 (-344C>T) may be associated with developing preeclampsia during pregnancy.
26556555 Polymorphisms of three genes (ACE, AGT and CYP11B2) in the renin-angiotensin-aldosterone system are not associated with blood pressure salt sensitivity. (Meta-analysis)
26305278 Strong synergistic effect between ACE and CY11B2 gene polymorphisms in the molecular pathogenesis of Essential Hypertension in Kazakhs in Xinjiang was identified.
26222001 The study explores the relation between ACE D/I and CYP11B2 C-344T polymorphisms and parameters of arterial stiffness in the context of renal sodium handling.
26200036 univariate and multivariable analyses revealed no association between -344C/T of CYP11B2 and plasma glucose in patients with no diabetes, Homeostasis Model Assessment as an Index of Insulin Resistance, or left ventricular mass indexed to height.
26066897 Chimeric CYP11B2/CYP11B1 causing 11beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
25966076 suggested that the -344T>C polymorphism in Studies suggest that the cytochrome P450 11B2 (CYP11B2) gene might be associated with susceptibility to CAD in Caucasians and Asians.
25917967 Our results suggest that the down-regulation of ANP gene expression at mRNA and protein levels and up-regulated CYP11B2 protein expression levels may be correlated with the essential hypertension
25768006 Obesity risk increased with GRK4 A486V and CYP11B2 variants in Korean girls as sodium intake increased.
25572238 the CT and TT genotypes of aldosterone synthase C-344T polymorphism, frequency of alcohol consumption and aldosterone levels were significantly high among the total as well as male
25504670 findings characterize the haplotype-dependent regulation of the hCYP11B2 gene where -344T serves as a reporter polymorphism and show that Hap-I leads to increased expression of hCYP11B2, with permissive effects on blood pressure and inflammatory milieu.
25354523 Our pooled data suggest a significant association exists between CYP11B2-344T>C polymorphism and atrial fibrillation among hypertension populations--{REVIEW}
25351194 microRNA (miR)-766 binds to the 735G-allele and not the 735A-allele of the hCyp11B2 gene and may downregulate the expression of human aldosterone synthase gene and reduce blood pressure in human subjects containing -344T allele.
25208931 This meta-analysis is purposed to reveal the relationship between the -344C/T aldosterone synthase variant and the left ventricular structure and function.
25102047 This cataloguing of deleterious SNPs is essential for narrowing down the number of CYP11B2 mutations to be screened in genetic association studies and for a better understanding of the functional and structural aspects of the CYP11B2 protein.
24842915 tumor area in aldosterone-producing adenoma specimens was correlated with preoperative plasma aldosterone, urinary aldosterone excretion, and the H score of 11beta-hydroxylase and was inversely correlated with the H score of aldosterone synthase.
24837548 Heterogenous immunolocalization of CYP11B2 and diffuse immunoreactivity of CYP11B1 were detected.
24599807 CYP11B2 polymorphism is an independent predictor for atrial fibrillation development in hypertrophic cardiomyopathy patients.
24549414 CYP11B2 genotype were associated to type 2 diabetes mellitus.
24472523 GnRH, through heterotopic expression of its receptor, may be a potential regulator of CYP11B2 expression levels in some cases of aldosterone-producing adenoma.
24423307 Aldosteronomas are hypomethylated, and CYP11B2 is overexpressed and hypomethylated in these tumors.
24388430 Plasma aldosterone concentration is significantly associated with -344 C/T CYP11B2 polymorphism and with the treatment with spironolactone in resistant hypertensive subjects.
24015270 Of 41 SNPs genotyped, rs3789678 and rs2493132 within AGT, rs4305 within ACE, rs275645 within AGTR1, rs3802230 and rs10086846 within CYP11B2 were shown to associate with hypertension.
23950878 The present meta-analysis suggested that CYP11B2 C-344T polymorphism was unlikely contribute to ischemic stroke susceptibility.
23936266 the CYP11B2 -344CC genotype was a significant and independent predictor of AF beyond conventional clinical and echocardiographic predictors of AF and genetic ancestry. It also associated with extreme elevation of serum aldosterone.
23748625 The present meta-analysis supported the positive association of the CYP11B2 -344C/T variant with ischemic stroke.
23701507 findings suggest that the -344C/T polymorphism of the CYP11B2 gene confers an increased risk of recurrent cerebral ischemia
23681285 CYP11B2 -344C/T polymorphism might be an independent risk factor of IgA nephropathy, focal segmental glomerulosclerosis and all proliferative chronic glomerulonephritis.
23535359 -344C allele may be associated with decreased risk of Idiopathic hyperaldosteronism; there was still no enough evidence to indicate the association of A2718G polymorphism with Primay aldosteronism risk.
23490082 The C-344T aldosterone synthase gene variant is associated with preclinical vascular alterations in essential hypertension.
23479071 study has shown that C-344T aldosterone synthase potentially predicts higher values of left ventricular mass index and concentric hypertrophy in untreated hypertension independently of renal function and subclinical inflammation
23443813 CYP11B2 immunostaining is a powerful tool for histopathological diagnosis of aldosterone overproduction in primary aldosteronism and for subtype classification of Aldesterone-producing adenomas and diffuse hyperplasia.
23275203 CYP11B2 T-344C polymorphism affects left ventricular structures only in the female hypertensive population. This gender-difference needs to be further elucidated.
23257735 low ratio of cytochrome P450 family 17/3 beta-hydroxysteroid dehydrogenase type II with high expression of steroid 11-beta-monooxygenase seems to explain steroidogenic characteristics of aldosterone-producing adenomas
23257211 The objective of this study was to assess aldosterone polymorphisms and relationships to plasma aldosterone levels and the development of renal histological lesions in kidney transplant patients.
23209837 Individuals with the C allele of CYP11B2 T-344C gene polymorphism have higher risk for atrial fibrillation.
23204185 polymorphism in the CYP11B2 gene was significantly associated with hypertension in the Chinese population
23150505 Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension.
23135028 The findings of this study suggested a significant association of CYP11B2 (-344C/T) polymorphism with stroke but intron 2 polymorphism is not associated with increased stroke susceptibility.
23133610 3-Pyridyl substituted aliphatic cycles as CYP11B2 inhibitors: aromaticity abolishment of the core significantly increased selectivity over CYP1A2
23023242 Significant differences in the gene expression of aldosterone synthase and adrenocorticotropic hormone receptor distinguishes adrenal neoplasms from primary aldosteronism.
22885098 Report role of CYP11B2 in metandienone metabolism.
22801770 reports the first CYP11B2 defects in Southeast Asian families responsible for aldosterone synthase deficiency and identifies a novel mutation (c.666delC)inherited from both parents.
22652909 Small molecule inhibition of the APEX1 repressor or treatment with small interfering RNA (siRNA) leads to increased CYP11B2 transcription.
22650983 The 344 C/T polymorphism of the CYP11B2 gene predicts resolution of hypertension in patients undergoing adrnelactomy for aldosterone-producing adenoma.
22508051 The G allele of CYP11B2 rs1799998 polymorphism is highly associated with coronary heart disease and severity of coronary atherosclerosis. Interaction of rs1799998, age, and smoking status is also associated with enhanced risk of coronary artery disease.
22331364 This study demonstrates a novel insight into intracellular mechanism of VLDL-mediated aldosterone synthesis through transcriptional regulation of steroidogenic acute regulatory protein and Cyp11B2 expression.
22311496 For female patients, no association was found between CYP11B2 -344T/C polymorphism and aldosterone level.
22217843 Both CMO I/CYP11B1 and CMO II/CYP11B2 (expressed as recombinant proteins in COS-7 cells) exhibit steroid 11-beta-hydroxylase activity, but only CMO II/CYP11B2 exhibits steroid 18-hydroxylase activity to form aldosterone. [REVIEW]
22156739 The present investigation demonstrates a possible association between the polymorphisms existing in the renin-angiotensin-aldosterone system pathway T174M and CYP11B2 C-344T and sensitivity of an individual to develop high-altitude pulmonary edema.
22134143 The epistasis between CYP11B2 and NOS3 and its correlation with varied clinical and biochemical parameters signify its possible contribution in the complex etiology of hypertension.
22083159 We describe a family with an atypical CYP11B1/CYP11B2 gene inheritance pattern and variable phenotypic expression, where the majority of pediatric patients have primary aldosteronism.
21846681 The -344T/C polymorphism in the aldostrone synthase gene is not associated with atrial fibrillation but it might be associated with atrial remodelling in hypertensives.
21777344 Aldosterone synthase gene C-344T polymorphism not only acts as a risk factor for the development of focal segmental glomerulosclerosis, but also may influence its pathologic appearance.
21682760 The aldosterone synthase (CYP11B2) gene -344T>C polymorphism was found to be associated with essential hypertension (odds ratio 1.252; 95% confidence interval 1.067-1.468; P(add) = 0.006).
21625068 a definitive diagnosis of glucocorticoid-remediable aldosteronism can only be obtained by identification of the CYP11B1/CYP11B2 chimeric gene
21476902 C-344T polymorphism is a risk factor for accelerated progression in Caucasian patients with IgA nephropathy.
21357309 The polymorphism of C-344T in the promoter region of the CYP11B2 gene was associated with electrocardiogram left ventricular hypervoltage in the Keriyan population.
21269059 the rs3802230 C allele might be a risk marker for essential hypertension and haplotype AAGC might confer high genetic susceptibility to essential hypertension in a southwest Han Chinese population
21239432 The effects of high-density lipoprotein subtypes on the production of aldosterone and CYP11B2 expression in human adrenal cortex cells are reported.
21228735 these results suggest that genetic variation rs1799998 (-344C/T) of CYP11B2 gene may contribute to the risk of IS with moderate effect in Han Chinese population.
21164264 Importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis.
21163122 Among the ACE, AGT, AT1R and CYP gene polymorphisms, only the DD genotype may predispose the individual to increased risk of progression to Eend-stage renal disease in the Chinese population.
21127960 Haplotype AGGC in the aldosterone synthase gene conferred an increased risk for hypertension in the Hani minority males in China.
21125974 Increased expression of CYPIIB2 in the atria is one of the molecular mechanisms for the development of atrial interstitial fibrosis in patients with atrial fibrillation.
21106862 PPAR-gamma suppresses CYP11B2 expression/aldosterone secretion through calcium/calmodulin-dependent kinase I, which may account for the suppressive effects of PPAR-gamma on vascular events associated with atherosclerosis and hypertension.
21092623 CYP11B2 gene -344T/C polymorphism was associated with essential hypertension in Chinese Mongolian population.
20966514 Observational study of gene-disease association. (HuGE Navigator)
20878543 Demonstrates interaction between the CYP11B2 genotype and alcohol consumption on the risk of hypertension in Chinese Mongolian population.
20878543 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20831027 The CYP11B2 CT and TT genotypes are candidates for hypertension complicating stroke in the Mongolian population
20808686 The chimeric gene CYP11B1/CYP11B2 (crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2) cause Glucocorticoid-remediable aldosteronism. (CTP11B2)
20708777 Aldosterone-producing adenoma patients were genotyped for rs1799998 (C-344 T), intron 2 conversion, & rs4539 (A2718G). DNA polymorphisms at CYP11B2/B1 locus may confer susceptibility to postoperative hypertension of patients with APA.
20708777 Observational study of gene-disease association. (HuGE Navigator)
20662731 No significant association was observed between CYP11B2 -344 C/T polymorphism and hypertension susceptibility in both sexes nor any association between the etiology of essential hypertension and CYP11B2 - 344 C/T polymorphism in Han Chinese.
20662731 Meta-analysis of gene-disease association. (HuGE Navigator)
20659024 Observational study of gene-disease association. (HuGE Navigator)
20634641 Results describe an unprecedented case of unequal cross-over mutation for the chimeric CYP11B1/CYP11B2 gene causing familial hyperaldosteronism-I, which may be linked to a polymorphism in the index case's father germ line.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20598712 our study suggests that -344T allele of CYP11B2 gene is an important risk factor for hypertension and ischemic stroke
20598712 Observational study of gene-disease association. (HuGE Navigator)
20560800 association between the CYP11b2 genotype and diastolic BP was modified by BMI and WC, suggesting an interaction of the C-344T polymorphism of CYP11b2 with BMI and WC in a Chinese Mongolian population.
20560800 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20537417 Observational study of gene-disease association. (HuGE Navigator)
20535141 the genotype of -344T/C of CYP11B2 was neither related with gestational hypertension nor with aldosterone levels at delivery.
20535141 Observational study of gene-disease association. (HuGE Navigator)
20494601 The first CYP11B2 gene defects in two Polish families associated with phenotypes of aldosterone synthase deficiency type I.
20486282 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20416077 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20413672 CN mediates the Ang II-induced aldosterone synthesis through up-regulation of the CYP11B2 transcription.
20381197 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20339375 there was a significant association between polymorphisms in the CYP11B2 and CYP11B1 genes and a genetic predisposition to idiopathic hyperaldosteronism.
20339375 Observational study of gene-disease association. (HuGE Navigator)
20300066 Three polymorphisms that are associated with the variation in baroreflex sensitivity were identified in the eNOS, CYP11B2, and B2R genes, respectively; overall, they accounted for 16% of the BRS variation.
20300066 Observational study of gene-disease association. (HuGE Navigator)
20224556 The -344 T>C and 3097 G>A polymorphisms in the CYP11B2 are associated with type 2 diabetes, hypertension and the metabolic syndrome in European subjects with gender variations.
20224556 Observational study of gene-disease association. (HuGE Navigator)
20214802 Observational study of gene-disease association. (HuGE Navigator)
20193392 Our result suggested that polymorphisms of rs4545 in CYP11B2 gene might not be associated with atrial fibrillation but polymorphism of 3'UTR rs3802228 locus in CYP11B2 gene might be associated with atrial structural remodeling.
20193392 Observational study of gene-disease association. (HuGE Navigator)
20193236 Essential hypertension might positively be affected by the interaction of the C (-344) T polymorphism of CYP11B2 and the drinking index in Chinese Mongolian population.
20193236 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20182453 Aldosterone synthase C-344T polymorphism is irrelavant for the development of hypertension.
20182453 Observational study of gene-disease association. (HuGE Navigator)
20176774 Compared to CC genotype, CT and TT CYP11B2 genotypes are independently associated with increased stroke index.
20176774 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20123934 Genetic variations in aldosterone synthase (CYP11B2) gene are associated with the progression of atherosclerotic plaque size, MMP-9 and apoptosis in the carotid artery.
20097716 ATF/CREB and NGFI-B family members play a crucial role in the transcriptional regulation of CYP11B2 and adrenal cell capacity to produce aldosterone.
20094057 The CC genotype of the CYP11B2 C-344T polymorphism was associated with an age-dependent increase in the serum C-reactive protein level independent of blood pressure.
20094057 Observational study of gene-disease association. (HuGE Navigator)
19956635 Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19853701 Observational study of gene-disease association. (HuGE Navigator)
19820005 Observational study of gene-disease association. (HuGE Navigator)
19786005 Data show that the CYP11B2 haplotype T-Ic is associated with hypertension susceptibility.
19779464 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19776632 CYP11B2 gene -344C/T polymorphism affects the risk of hypertension in Japanese men and high-salt intake levels strengthen this association.
19729965 Observational study of gene-disease association. (HuGE Navigator)
19609286 in hypertensive individuals, ASGP is not directly associated with the blood pressure level, but rather independently with its two main determinants, central pulse wave velocity and wave reflections
19609286 Observational study of gene-disease association. (HuGE Navigator)
19418629 Ang II increased the expression levels of early transcription factors NR4A1 and NR4A2 and aldosterone synthase
19407459 A thymidine-to-cytosine substitution in the -344 promoter region of the aldosterone synthase gene CYP11B2 is associated with essential hypertension in the Chinese.
19407459 Meta-analysis of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19332265 Observational study of gene-disease association. (HuGE Navigator)
19262476 an association was found between T allele of aldosterone synthase and hypertension
19262476 Observational study of gene-disease association. (HuGE Navigator)
19254215 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19253715 Observational study of gene-disease association. (HuGE Navigator)
19243623 Observational study of gene-disease association. (HuGE Navigator)
19166692 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19158234 NGFI-B family members induced promoter activity of 3-beta-hydroxysteroid-dehydrogenase type 2 (HSD3B2), 21-hydroxylase (CYP21A2), and aldosterone synthase (CYP11B2).
19151144 High aldosterone availability is associated with lower maternal blood pressure. Gain-of-function variants of CYP11B2 reduce the risk of developing pre-eclampsia. Mutants of the mineralocorticoid receptor cannot explain pre-eclampsia.
19151144 Observational study of gene-disease association. (HuGE Navigator)
19117407 No relationship between -344 C/T CYP11B2 polymorphism and atrial fibrillation was found.
19116236 A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.
19112833 Observational study of gene-disease association. (HuGE Navigator)
19093739 Results support a potential role of -344T/C CYP11B2 gene polymorphism in genetic predisposition to develop hypertension.
19093739 Observational study of gene-disease association. (HuGE Navigator)
19026620 findings suggest a lack of significant association between the aldosterone synthase C-344T polymorphism and preeclampsia or gestational hypertension
19026620 Observational study of gene-disease association. (HuGE Navigator)
18974272 The opposing effects of SF-1 on CYP11B1 and CYP11B2 suggest that the regulation of SF-1 activity may play a role that determines the relative ability to produce mineralocorticoid and glucocorticoid.
18856058 The analysis of carriership of the alleles and genotypes combinations of the polymorphous regions has shown that genes CYP11B2, REN, ACE, CMA andA T2R1 participate in development of low-renin HA
18856058 Observational study of gene-disease association. (HuGE Navigator)
18855530 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18773126 Observational study of gene-disease association. (HuGE Navigator)
18771471 aldosterone synthase gene polymorphism is not associated with progression of diabetic nephropathy, but it may contribute to the development of hypertension associated with increased aldosterone secretion in type 2 diabetic patients.
18771471 Observational study of gene-disease association. (HuGE Navigator)
18710464 Variants Gln404Arg, Ala414Pro and His439Tyr in the aldosterone synthase (CYP11B2) gene showed increases in both corticosterone and aldosterone synthesis.
18660489 Observational study of gene-disease association. (HuGE Navigator)
18638595 CYP11B2 T-344C promoter polymorphism predisposes to clinical AF in patients with HF.
18638595 Observational study of gene-disease association. (HuGE Navigator)
18636124 Observational study of gene-disease association. (HuGE Navigator)
18446309 Observational study of gene-disease association. (HuGE Navigator)
18413308 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18397978 Development of an in vivo detection system of adrenal Cyp11B enzymes by [(123)I]IMTO scintigraphy in both experimental animals and humans.
18260994 Participation of CYP11B2 gene in development of low renin AH was convincingly shown.
18260994 Observational study of gene-disease association. (HuGE Navigator)
18260840 Observational study of gene-disease association. (HuGE Navigator)
18202594 CYP11B2, especially the -344C/T polymorphism, are associated with cardiovascular diseases
18192839 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17987391 CYP11B2(cytochrome P450 family 11 subfamily B polypeptide 2) C-344T and K173R polymorphisms were significantly associated with high-altitude pulmonary edema (HAPE)
17987391 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17984617 Observational study of gene-disease association. (HuGE Navigator)
17980006 Observational study of gene-disease association. (HuGE Navigator)
17851694 Observational study of gene-disease association. (HuGE Navigator)
17762647 Observational study of gene-disease association. (HuGE Navigator)
17762647 C-344T polymorphism of the CYP11B2 gene seems to exert a sex-specific influence on body adiposity, independent of adrenal aldosterone
17698557 Independently of hypertension, homozygous individuals for the -344T allele may have 2.4% higher PWT compared to homozygous for the C-344 allele. Besides, homozygous hypertensive TT subjects show a 6.9% increase in LVM compared to CC homozygous subjects.
17698557 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17664852 no association between CYP11B2 and blood pressure for total subjects or for persons with a higher sodium intake in a Japanese community
17651452 Hypertensives homozygous for the -344 T allele of CYP11B2 demonstrate altered 11beta-hydroxylase efficiency (CYP11B1); this is consistent with the hypothesis of a genetically determined increase in adrenal ACTH drive in these subjects.
17633457 The CYP11B2 K173R polymorphism correlates with the susceptibility of essential hypertension in the northern Chinese Han population.
17633457 Observational study of gene-disease association. (HuGE Navigator)
17631084 Observational study of gene-disease association. (HuGE Navigator)
17631084 the 344-C allele of the aldosterone synthase gene polymorphism was associated with improved cardiac remodeling over time for African-Americans with chronic systolic heart failure
17546276 Observational study of gene-disease association. (HuGE Navigator)
17531119 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17519002 Observational study of gene-disease association. (HuGE Navigator)
17407071 Results suggest that -344T/C polymorphism of aldosterone synthase gene may be associated with early renal damage in Han nationality with essential hypertension, C allele may be a genetic factor susceptible to renal damage in hypertensives
17407071 Observational study of gene-disease association. (HuGE Navigator)
17383306 Observational study of gene-disease association. (HuGE Navigator)
17334644 Observational study of gene-disease association. (HuGE Navigator)
17334527 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17318792 The association between the CYP11B2 C-344T polymorphism and hypertrophy in hypertrophic cardiomyopathy most likely relates to the T allele-related increases in circulating aldosterone.
17296872 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17296872 T(-344)C polymorphism in CYP11B2 appears to affect salt sensitivity in Japanese and to have clinical significance.
17273158 The regulatory role of the -344C/T polymorphism of CYP11B2 is associated with Age- and gender-related blood pressure.
17261471 Observational study of gene-disease association. (HuGE Navigator)
17261471 The C allele of -344C/T variant of CYP11B2 increases susceptibility to metabolic syndrome in European men, but not in women, suggesting a pleiotropic role for this gene in modulating cardiovascular risk.
17190732 The present study suggests that none of the major genetic polymorphisms in the RAA system (angiotensinogen, angiotensin-converting enzyme, angiotensin II type 1 receptor, and aldosterone synthase) strongly influence the onset of essential hypertension.
17143166 Meta-analysis of gene-disease association. (HuGE Navigator)
17075029 Observational study of gene-disease association. (HuGE Navigator)
17075029 Impaired 11beta-hydroxylase efficiency associated previously with the CYP11B2 -344 and intron conversion variants is because of linkage with these newly identified polymorphisms in CYP11B1.
17003099 Observational study of gene-disease association. (HuGE Navigator)
17003099 Association of the -344T/C CYP11B2 gene polymorphism with blood pressure in patients affected by acromegaly.
16984984 Observational study of gene-disease association. (HuGE Navigator)
16979018 Observational study of gene-disease association. (HuGE Navigator)
16893516 Observational study of gene-disease association. (HuGE Navigator)
16893516 over-representation of wild-type -344T allele, genotype combinations and haplotypes of CYP11B2, and their correlation with lower aldosterone levels associate with high altitude adaptation in the Himalayan highlanders.
16796847 Observational study of gene-disease association. (HuGE Navigator)
16780672 Observational study of gene-disease association. (HuGE Navigator)
16767667 The polymorphism of Hind III restriction site on Y chromosome is associated with essential hypertension, and when combined with polymorphism of CYP11B2 -344C/T, may have a united role to increase the risk of suffering from hypertension disease.
16767667 Observational study of gene-disease association. (HuGE Navigator)
16765146 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16759311 Observational study of gene-disease association. (HuGE Navigator)
16714246 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16672053 Observational study of gene-disease association. (HuGE Navigator)
16638864 Observational study of gene-disease association. (HuGE Navigator)
16615274 Observational study of gene-disease association. (HuGE Navigator)
16580565 Observational study of gene-disease association. (HuGE Navigator)
16485730 Observational study of gene-disease association. (HuGE Navigator)
16468060 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16396990 PCB126 up-regulates steroidogenic CYP11B1 and CYP11B2 mRNA expression not via AhR-mediated transcriptional activation but by increasing posttranscriptional mRNA stability
16303227 Observational study of gene-disease association. (HuGE Navigator)
16303227 the CYP11B2 gene polymorphism is not directly associated with preeclampsia, eclampsia, and the HELLP syndrome in women with these conditions; therefore, this polymorphism may not be a risk factor for these disorders, at least not in the Turkish population
16208140 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16208140 The C-344T polymorphism of aldosterone synthase gene plays a role in controlling systolic blood pressure and the age-related increase in systolic blood pressure in response to age and to body fat.
16207322 Observational study of gene-disease association. (HuGE Navigator)
16126185 Observational study of gene-disease association. (HuGE Navigator)
16126185 The -344C allele of the CYP11B2 may play a role in genetic predisposition to developing essential hypertension in Hani and Yi minorities of China.
16110193 Observational study of genotype prevalence. (HuGE Navigator)
16080805 The CYP11B-344C/T polymorphism is associated with small artery compliance, and TT genotype subjects are susceptible to abnormality of small arterial compliance.
16080805 Observational study of gene-disease association. (HuGE Navigator)
16080804 Subjects with the combination of ACE DD and CYP11B2 CC genotypes might have a better blood pressure response to hydrochlorothiazide than the other genotypic combinations of these 2 genes.
16080804 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16078594 Observational study of gene-disease association. (HuGE Navigator)
15914614 Observational study of gene-disease association. (HuGE Navigator)
15894891 aldosterone synthase gene polymorphism (ASGP) CYP11B2 influences the age-related changes in blood pressure (BP) and arterial stiffness in hypertensive subjects
15894890 Observational study of gene-disease association. (HuGE Navigator)
15894890 The -344CC or intron 2 conversion (-/-) genotype in CYP11B2 may be a risk factor for developing sodium-sensitive cardiac hypertrophy.
15882548 Observational study of gene-disease association. (HuGE Navigator)
15824464 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15699546 Inactivating mutations cause aldosterone synthase deficiency.
15662219 Observational study of gene-disease association. (HuGE Navigator)
15643128 Observational study of gene-disease association. (HuGE Navigator)
15643128 The correlation of the intron-2 conversion allele with high systolic blood pressure and plasma renin ratio associates it with hypertension.
15614025 Observational study of gene-disease association. (HuGE Navigator)
15614025 The CYP11B2 C-344T polymorphism affects arterial stiffness. However, sodium intake seems to modulate this genetic effect.
15611122 data support a physiological role of Ubc9 and PIAS1 as transcriptional coactivators in COUP-TFI-mediated CYP11B2 transcription
15600184 Observational study of gene-disease association. (HuGE Navigator)
15583997 Observational study of gene-disease association. (HuGE Navigator)
15573760 Observational study of gene-disease association. (HuGE Navigator)
15569322 Aldo deficiency due to a compromised methyl oxidase step of Aldo synthesis favors extracellular volume depletion, and may account for an increased risk of placental hypoperfusion and consecutive development of preeclampsia
15545843 Observational study of gene-disease association. (HuGE Navigator)
15545843 may be polymorphic among mult=ethnic groups as a risk factor for hypertension
15532370 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15522937 Linkage disequilibrium between causative CYP11B1 variants and CYP11B2 polymorphisms account for urinary 11-deoxycortisol excretion.
15507509 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15507509 Molecular variant in CYP11B2 is in linkage disequilibrium (LD) with a key quantitative trait in CYP11B1.
15505931 The results suggest that -344T/C polymorphism of CYP11B2 gene may be associated with low-renin essential hypertension in the Han nationality in Shandong province.
15505931 Observational study of gene-disease association. (HuGE Navigator)
15479186 Observational study of gene-disease association. (HuGE Navigator)
15378162 Renal function in relation to ALDOS was studied in a Han population.
15361760 Observational study of gene-disease association. (HuGE Navigator)
15361760 In multi-ethnic population, C-344T CYP1B2 polymorphism is associated with blood pressure, plasma aldosterone levels and aldosterone-to-renin ratio. Significant differences in allele frequencies between groups. Ethnicity does not explain results.
15272911 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15238568 Observational study of gene-disease association. (HuGE Navigator)
15238568 CYP11B2 C-344T and AT1R A1166C polymorphisms affect the autonomic modulation of heart rate, but these genetic effects depend on sodium excretion.
15230231 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15223724 Observational study of gene-disease association. (HuGE Navigator)
15223724 TT genotype of T-344C polymorphism of aldosterone synthase gene was associated with significantly higher levels of plasma renin in normotensive men
15135254 Observational study of gene-disease association. (HuGE Navigator)
15135254 Aldosterone synthase genotype is unrelated to overall coronary artery disease events risk in male patients.
15102677 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
15097233 The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to influence systolic blood pressure in Chinese, suggesting that these genes might indeed predispose to hypertension
15062555 Observational study of gene-disease association. (HuGE Navigator)
15062555 identified two new variants in CYP11B2, a C/T single nucleotide exchange located in the first intron and a double nucleotide exchange at the 3'-splice site of exon 8
15055249 Observational study of gene-disease association. (HuGE Navigator)
15055249 -344C/T polymorphism in CYP11B2 was considered an independent genetic factor possibly associated with hypertension or atherosclerotic diseases in the Japanese population.
14736447 Observational study of gene-disease association. (HuGE Navigator)
14736447 Our data suggest that -344C/T polymorphism in the promoter region of the aldosterone synthase gene affects left ventricular mass and thickness in essential hypertension, independent of adrenal aldosterone.
14704730 Observational study of gene-disease association. (HuGE Navigator)
14643573 Observational study of gene-disease association. (HuGE Navigator)
14643573 A variant within the CYP11B2 locus has a clinically important impact on the severity of SBP changes in individuals with newly diagnosed hypertension who are of African ethnicity.
14530292 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
14508191 Observational study of genotype prevalence, gene-disease association, and gene-gene interaction. (HuGE Navigator)
12832734 Observational study of gene-disease association. (HuGE Navigator)
12817181 Observational study of gene-disease association. (HuGE Navigator)
12817181 The T-344C and A6547G, but not the T4986C, variants of the aldosterone synthase gene are associated with HT in females of the Anglo-Celtic population studied.
12788848 Exon 3 mutation (C554T, leading to amino acid T185I) and exon 9 mutation (A1492G, leading to T498A)localize to beta 3-sheet in cytochrome P450 enzyme structure. Aldosterone synthase catalyzes oxygenation of the C(18) carbon of steroid substrates.
12788845 Observational study of gene-disease association. (HuGE Navigator)
12788845 Linear modeling of postural changes in renin and aldosterone showed a maximal achievable aldosterone increase of 110 pmol/liter with no mutated haplotype and 500 pmol/liter with two mutated haplotypes. Molecular basis for aldosterone production.
12783697 Observational study of gene-disease association. (HuGE Navigator)
12746403 Observational study of gene-disease association. (HuGE Navigator)
12746403 Genetic variation in or near the CYP11B2 gene is a possible genetic marker for the progression of renal dysfunction in females with IgA nephropathy, but not in males
12627873 Observational study of gene-disease association. (HuGE Navigator)
12624609 Observational study of gene-disease association. (HuGE Navigator)
12611423 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12544508 Observational study of gene-environment interaction. (HuGE Navigator)
12544440 Observational study of gene-disease association. (HuGE Navigator)
12544440 Contrasting associations between these variants and essential hypertension do not necessarily exclude the possibility that other, as yet undefined, variants of the aldosterone synthase gene could be linked with hypertension in black people.
12446468 Observational study of gene-disease association. (HuGE Navigator)
12446192 Observational study of gene-disease association. (HuGE Navigator)
12444540 Observational study of gene-disease association. (HuGE Navigator)
12391843 Observational study of gene-disease association. (HuGE Navigator)
12391843 The study of association of CYP11B2 polymorphism with hypertension in Russian patients in Bashkorstan
12376254 Observational study of gene-disease association. (HuGE Navigator)
12376254 CT genotype of CYP11B2 gene may be one of factors responsible for the pathogenesis of hypertrophic cardiomyopathy HCM in a proportion of patients.
12213905 Observational study of gene-disease association. (HuGE Navigator)
12213905 Variation in locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio
12205735 Observational study of gene-disease association. (HuGE Navigator)
12195120 Observational study of gene-disease association. (HuGE Navigator)
12195120 Inter-individual variation of blood pressure and plasma aldosterone is affected by the interaction of C(-344)T polymorphism and ageing.
12193581 CaMKI is involved in angiotensin II and K(+) stimulation of CYP11B2 transcription and the capacity of the adrenal to produce aldosterone
12172317 Observational study of gene-disease association. (HuGE Navigator)
12172317 Carotid and femoral intima-media thickness were assessed in subjects genotyped for the presence of the ACE D, aldosterone synthase -344T and alpha-adducin 460Trp alleles.
12161536 Expression of aldosterone synthase gene in failing human heart
12133420 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
12133420 investigate the relationship of gene polymorphism of angiotension converting enzyme (ACE), aldosterone synthase (CYP11B2) with essential hypertension (EH) and left ventricular hypertrophy (LVH) in hypertensive patients
12107246 Observational study of gene-disease association. (HuGE Navigator)
12065207 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12031704 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12022239 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11932209 Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1
11923700 Observational study of gene-disease association. (HuGE Navigator)
11910301 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
11903322 role in familial hyperaldosteronism
11856349 Substrate recognition and conversion are attributed to the N-terminal part of human CYP11B2.
11841224 The unmodified mitochondrial localization signal of human CYP11B2 is functional when expressed in fission yeast, and overexpression of the gene significantly enhances steroid hydroxylase activity of CYP11B2-expressing fission yeast cells.
11728946 Observational study of gene-disease association. (HuGE Navigator)
11728005 Observational study of genotype prevalence. (HuGE Navigator)
11725161 Observational study of genotype prevalence, gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11711524 Observational study of gene-disease association. (HuGE Navigator)
11711521 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
11696688 Observational study of gene-disease association. (HuGE Navigator)
11696658 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
11587161 Observational study of gene-disease association. (HuGE Navigator)
11518842 Observational study of gene-disease association. (HuGE Navigator)
11447495 Observational study of gene-disease association. (HuGE Navigator)
11422735 Observational study of gene-disease association. (HuGE Navigator)
11422106 Observational study of gene-disease association. (HuGE Navigator)
11325068 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11288810 Observational study of gene-disease association. (HuGE Navigator)
11245725 Observational study of gene-disease association. (HuGE Navigator)
11116113 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQ      1 - 70
TFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFN     71 - 140
RLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLG    141 - 210
LVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAF    211 - 280
NRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAAS    281 - 350
ISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRP    351 - 420
ERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILR    421 - 490
PGTSPLLTFRAIN                                                             491 - 503
//

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21269059 2011 Association of the human CYP11B2 gene and essential hypertension in southwest Han Chinese population: a haplotype-based case-control study.
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21127960 2011 Haplotype-based case-control study of the human CYP11B2 gene and essential hypertension in Yi and Hani minorities of China.
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19262476 2009 T allele of -344 C/T polymorphism in aldosterone synthase gene is not associated with resistant hypertension.
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19253715 2009 [Genetic determinants of cardiovascular remodeling in Uzbek patients with essential hypertension].
19243623 2009 Analysis of renin-angiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects.
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19151144 2009 High aldosterone-to-renin variants of CYP11B2 and pregnancy outcome.
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19112833 2008 [Genetic predisposition to systemic complications of arterial hypertension in maintenance haemodialysis patients].
19093739 2009 Association of the -344T/C aldosterone synthase gene variant with essential hypertension.
19026620 2009 Aldosterone synthase gene polymorphism is not associated with gestational hypertension or preeclampsia.
18974272 2009 Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.
18856058 [Comparative genetic analysis of different forms of low-renin arterial hypertension].
18855530 2008 Clinical variables, not RAAS polymorphisms, predict blood pressure response to ACE inhibitors in Sardinians.
18773126 2008 Renin-angiotensin-aldosterone system gene polymorphisms and antihypertensive response to irbesartan in Chinese hypertensives.
18771471 2008 Polymorphism of the aldosterone synthase gene is not associated with progression of diabetic nephropathy, but associated with hypertension in type 2 diabetic patients.
18710464 2009 Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18638595 2008 Aldosterone synthase gene polymorphism as a determinant of atrial fibrillation in patients with heart failure.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18446309 2008 The renin-angiotensin-aldosterone system in cerebral small vessel disease.
18413308 2008 Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia.
18397978 2008 [123 I]Iodometomidate for molecular imaging of adrenocortical cytochrome P450 family 11B enzymes.
18260994 2008 [Contribution of CYP11B2, REN and AGT genes in genetic predisposition to arterial hypertension associated with hyperaldosteronism].
18260840 2007 [Specifics of distribution of polymorphic markers of the renin-angiotensin-system genes, relation to ventricular hypertrophy in patients with essential hypertension of Uzbek nationality].
18202594 2007 [The role of the -344C/T polymorphism of the aldosterone synthase gene (CYP11B2) in cardiovascular diseases].
18192839 2008 Intron-2 conversion polymorphism of the aldosterone synthase gene and the antihypertensive response to angiotensin-converting enzyme inhibitors.
17987391 2008 Synergistic effect of the genetic polymorphisms of the renin-angiotensin-aldosterone system on high-altitude pulmonary edema: a study from Qinghai-Tibet altitude.
17984617 2007 Gene polymorphisms of the renin-angiotensin-aldosterone system and angiotensin II type 1-receptor activating antibodies in renal rejection.
17980006 2008 Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects.
17851694 2007 RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy.
17762647 2007 Skinfold thickness and blood pressure across C-344T polymorphism of CYP11B2 gene.
17698557 2008 Role of the C-344T aldosterone synthase gene variant in left ventricular mass and left ventricular structure-related phenotypes.
17664852 2007 Aldosterone synthase gene T-344C polymorphism, sodium and blood pressure in a free-living population: a community-based study.
17651452 2007 Phenotypic consequences of variation across the aldosterone synthase and 11-beta hydroxylase locus in a hypertensive cohort: data from the MRC BRIGHT Study.
17633457 2007 [Relationship between aldosterone synthase gene (CYP11B2) polymorphisms and essential hypertension in a northern Chinese Han population].
17631084 2007 Usefulness of the aldosterone synthase gene polymorphism C-344-T to predict cardiac remodeling in African-Americans versus non-African-Americans with chronic systolic heart failure.
17546276 2007 Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region.
17531119 2007 Effect of renin-angiotensin-aldosterone system gene polymorphisms on blood pressure response to antihypertensive treatment.
17519002 2007 Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age.
17407071 2007 [Association of aldosterone synthase gene -344 T/C polymorphism with early renal damage in Han nationality with essential hypertension].
17383306 2007 A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems.
17334644 2007 Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals.
17334527 2007 Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension.
17318792 2006 Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.
17296872 2007 Polymorphism of CYP11B2 determines salt sensitivity in Japanese.
17273158 2007 Age- and gender-dependent association of the -344C/T polymorphism of CYP11B2 with blood pressure in European populations.
17261471 2007 -344C/T Variant in the promoter of the aldosterone synthase gene (CYP11B2) is associated with metabolic syndrome in men.
17190732 2007 Investigation of major genetic polymorphisms in the Renin-Angiotensin-aldosterone system in subjects with young-onset hypertension selected by a targeted-screening system at university.
17143166 2007 Association of the C-344T aldosterone synthase gene variant with essential hypertension: a meta-analysis.
17075029 2007 Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency.
17003099 2006 CYP11B2 -344T/C gene polymorphism and blood pressure in patients with acromegaly.
16984984 2006 Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene.
16979018 2006 Aldosterone synthase promoter polymorphism predicts outcome in African Americans with heart failure: results from the A-HeFT Trial.
16893516 2006 Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation.
16796847 2006 [Association of aldosterone synthase gene -344T/C polymorphism with plasma aldosterone and angiotensin II concentration in hypertensive patients].
16780672 2006 [Single nucleotide polymorphisms of three candidate genes in essential hypertension].
16767667 2006 [Correlativity between the polymorphisms of aldosterone synthase gene, Hind III restriction site on Y chromosome and essential hypertension].
16765146 2006 Associations between CYP11B2 gene polymorphisms and the response to angiotensin-converting enzyme inhibitors.
16759311 2006 Aldosterone synthase (CYP11B2) -344T/C polymorphism is not associated with the initiation and progression of diabetic nephropathy in Caucasian Type 1 diabetic patients.
16714246 2006 Aldosterone synthase (CYP11B2)-344T/C polymorphism and renoprotective response to losartan treatment in diabetic nephropathy.
16672053 2006 Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms.
16638864 2006 Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer.
16615274 2006 [Association analysis of the essential hypertension susceptibility genes in adolescents: Kangwha study].
16580565 2006 HindIII(+/-) polymorphism of the Y chromosome, blood pressure, and serum lipids: no evidence of association in three white populations.
16485730 2006 Aldosterone synthase -344C/T and angiotensin-converting enzyme I/D polymorphisms in Turkish hypertensive patients with normal coronary arteries.
16468060 2006 RAAS polymorphisms alter the acute blood pressure response to aerobic exercise among men with hypertension.
16396990 2006 Mechanistic study of polychlorinated biphenyl 126-induced CYP11B1 and CYP11B2 up-regulation.
16303227 2006 Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women.
16208140 2005 C-344T polymorphism of the aldosterone synthase gene and blood pressure in the elderly: a population-based study.
16207322 2005 Association between the TNFRII 196R allele and diagnosis of rheumatoid arthritis.
16126185 2006 Association of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi minorities of China.
16110193 2005 Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland.
16080805 2005 [Relationship between the aldosterone synthase (CYP11B2)-344C/T polymorphism and small artery compliance].
16080804 2005 [Association of polymorphisms in ACE and CYP11B2 genes with antihypertensive effects of hydrochlorothiazide].
16078594 2005 [The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis].
15914614 2005 Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.
15894891 2005 Aldosterone synthase gene polymorphism, stroke volume and age-related changes in aortic pulse wave velocity in subjects with hypertension.
15894890 2005 Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2.
15882548 2005 Clinical and genetic correlates of serum aldosterone in the community: the Framingham Heart Study.
15824464 2004 The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.
15699546 2005 Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activity.
15662219 2005 Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.
15643128 2005 CYP11B2 gene polymorphisms and hypertension in highlanders accustomed to high salt intake.
15614025 2004 Association of peripheral and central arterial wave reflections with the CYP11B2 -344C allele and sodium excretion.
15611122 2005 Ubc9 and Protein Inhibitor of Activated STAT 1 Activate Chicken Ovalbumin Upstream Promoter-Transcription Factor I-mediated Human CYP11B2 Gene Transcription.
15600184 2003 [Associations between aldosterone synthase gene polymorphisms and left ventricular structure and function in Chinese normal Han People].
15583997 2004 [Association of the T(-344)C polymorphism of aldosterone synthase gene CYP11B2 with essential hypertension in Xinjiang Kazakh isolated group].
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15573760 2004 [Study on association between aldosterone synthase gene polymorphism and the left ventricular structure and function of patients with dilated cardiomyopathy in China].
15569322 2004 Evidence for compromised aldosterone synthase enzyme activity in preeclampsia.
15545843 2004 Multiple Polymorphisms in the renin- angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort.
15532370 2004 [Association of the complex of polymorphic markers of ACE genes, aldosteron synthetase and endothelial synthetase of nitric oxide with progression of chronic glomerulonephritis].
15522937 2005 Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.
15507509 2005 CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity.
15505931 2004 Associations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationality in Shandong province.
15479186 2004 Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese.
15378162 2004 Renal function in relation to three candidate genes in a Chinese population.
15361760 2004 Aldosterone synthase gene (CYP11B2) C-344T polymorphism, plasma aldosterone, renin activity and blood pressure in a multi-ethnic population.
15272911 2004 Aldosterone synthase gene variation and adrenocortical response to sodium status, angiotensin II and ACTH in normal male subjects.
15238568 2004 Genetic variation in CYP11B2 and AT1R influences heart rate variability conditional on sodium excretion.
15230231 2004 [Promoter variants of aldosterone synthase gene (CYP11B2) and salt-sensitivity of blood pressure].
15223724 2004 Association of -344/T/C aldosterone synthase polymorphism (CYP11B2) with left ventricular structure and humoral parameters in young normotensive men.
15135254 2004 The -344T>C promoter variant of the gene for aldosterone synthase (CYP11B2) is not associated with cardiovascular risk in a prospective study of UK healthy men.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
15102677 2004 Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms.
15097233 2004 Blood pressure in relation to three candidate genes in a Chinese population.
15062555 2004 Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.
15055249 2004 CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study.
14736447 2004 Association between aldosterone synthase (CYP11B2) polymorphism and left ventricular mass in human essential hypertension.
14704730 2003 Aldosterone synthase alleles and cardiovascular phenotype in young adults.
14643573 2003 Impact of renin-angiotensin-aldosterone system gene variants on the severity of hypertension in patients with newly diagnosed hypertension.
14614232 2003 A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.
14530292 2003 Genetic determinants of nonmodulating hypertension.
14508191 2003 Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPER Project.
12832734 Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency.
12817181 2003 Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension.
12788848 2003 A compound heterozygote case of type II aldosterone synthase deficiency.
12788845 2003 A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone to renin ratio in selected hypertensive patients.
12783697 2003 [Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome].
12746403 2003 Gender specific association of aldosterone synthase gene polymorphism with renal survival in patients with IgA nephropathy.
12627873 2003 A/C1166 gene polymorphism of the angiotensin II type 1 receptor (AT1) and ambulatory blood pressure: the Ohasama Study.
12624609 2003 Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.
12611423 2003 Renin-angiotensin-aldosterone system loci and multilocus interactions in young-onset essential hypertension.
12544508 2003 A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.
12544440 2003 Contrasting associations between aldosterone synthase gene polymorphisms and essential hypertension in blacks and in whites.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446468 2002 Genotyping of essential hypertension single-nucleotide polymorphisms by a homogeneous PCR method with universal energy transfer primers.
12446192 2002 Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.
12444540 2002 Positive association of CYP11B2 gene polymorphism with genetic predisposition to essential hypertension.
12391843 [Association of the -344T/C polymorphism of the aldosterone synthase gene with essential hypertension].
12376254 2002 [Association between aldosterone synthase gene polymorphism and hypertrophic cardiomyopathy].
12213905 2002 Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio.
12205735 2002 Renin-angiotensin-aldosterone system (RAAS) gene polymorphism as a risk factor of coronary in-stent restenosis.
12195120 2002 Interaction between the C(-344)T polymorphism of CYP11B2 and age in the regulation of blood pressure and plasma aldosterone levels: cross-sectional and longitudinal findings of the Olivetti Prospective Heart Study.
12193581 2002 Calmodulin-dependent kinase I regulates adrenal cell expression of aldosterone synthase.
12172317 2002 Carotid and femoral intima-media thickness in relation to three candidate genes in a Caucasian population.
12161536 2002 Expression of aldosterone synthase gene in failing human heart: quantitative analysis using modified real-time polymerase chain reaction.
12137808 2002 Development of a test system for inhibitors of human aldosterone synthase (CYP11B2): screening in fission yeast and evaluation of selectivity in V79 cells.
12133420 2002 [The relationship of aldosterone synthase gene polymorphism with hypertension and left ventricular hypertrophy].
12107246 2002 Blood pressure in patients with primary aldosteronism is influenced by bradykinin B(2) receptor and alpha-adducin gene polymorphisms.
12065207 2002 Variants of the CYP11B2 gene predict response to therapy with candesartan.
12031704 2002 An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.
12022239 2002 Aldosterone synthase (CYP11B2) -344 C/T polymorphism is related to antihypertensive response: result from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA) trial.
11967817 2000 Genetic basis of cardiovascular disease--the renin-angiotensin-aldosterone system as a paradigm.
11932209 2002 Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.
11923700 2002 Recipient RAS gene variants and renal allograft function.
11910301 2002 Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA) trial.
11903322 2001 Familial varieties of primary aldosteronism.
11728946 2001 Renal function in relation to three candidate genes.
11728005 2001 Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasama study.
11725161 2001 Aldosterone synthase gene (CYP11B2) C-334T polymorphism, ambulatory blood pressure and nocturnal decline in blood pressure in the general Japanese population: the Ohasama Study.
11711524 2001 Molecular basis of salt sensitivity in human hypertension. Evaluation of renin-angiotensin-aldosterone system gene polymorphisms.
11711521 2001 Carotid and femoral artery stiffness in relation to three candidate genes in a white population.
11696688 2001 A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts.
11696658 2001 Testing genetic susceptibility loci for alcoholic heart muscle disease.
11587161 2001 -344C/T polymorphism of CYP11B2 gene in Italian patients with idiopathic low renin hypertension.
11518842 2001 Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.
11447495 Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.
11422735 2001 Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.
11422106 2001 Polymorphic differences from normal in the aldosterone synthase gene (CYP11B2) in patients with primary hyperaldosteronism and adrenal tumour (Conn's syndrome).
11325068 2001 Lack of association between genetic polymorphism of CYP11B2 and hypertension in Japanese: the Suita Study.
11288810 2001 Angiotensin II type 1 receptor-153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects.
11245725 2001 Aldosterone synthase (CYP11B2) gene polymorphism and cerebral white matter hyperintensities.
11238478 2001 Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
11116113 2000 alpha-adducin and angiotensin I-converting enzyme polymorphisms in essential hypertension.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10902803 2000 Steroidogenic enzyme gene expression in the human heart.
10411633 1999 Interaction of CYP11B1 (cytochrome P-45011 beta) with CYP11A1 (cytochrome P-450scc) in COS-1 cells.
10391210 1999 Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
10391209 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes.
10371693 1999 Extra-adrenal mineralocorticoids and cardiovascular tissue.
9931115 1999 Genetic polymorphism of CYP11B2 gene and hypertension in Japanese.
9838244 1998 Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
9814506 1998 Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
9703385 1998 Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.
9625333 1998 Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
9506770 1998 Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3.
9360501 1997 Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
9177280 1997 CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
8954040 1996 Genetic variation in P450c11AS in Chilean patients with low renin hypertension.
8439335 1993 Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.
8372604 1993 Twin genes and endocrine disease: CYP21 and CYP11B genes.
7792802 1995 Inborn errors of aldosterone biosynthesis in humans.
3872685 1985 [Reconstruction and study of a multi-enzyme system by 11 beta-hydroxylase steroids].
2592361 1989 Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).
2256920 1990 Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism.
1775135 1991 The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.
1741400 1992 Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.
1594605 1992 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
1518866 1992 Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.
1346492 1992 Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.
1303253 1992 Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.