Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension

Kumar, Natasha N.; Benjafield, Adam; Lin, Ruby C.Y.; Wang, William Y.S.; Stowasser, Michael; Morris, Brian J.

doi:10.1097/00004872-200307000-00022

Cited by 69 publications

(70 citation statements)

References 41 publications

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“…2,3 Although some studies have not confirmed these associations, 2 this locus may be important in blood pressure and cardiovascular regulation. 2,3 Several factors such as gender, 4 ethnicity 5 and age 6-8 could be involved in the phenotypic expression of this polymorphism. In particular, Sarzani et al 7 reported that C allele of À344C/T was associated with higher blood pressure levels in young adults.…”

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confidence: 99%

Age- and gender-dependent association of the –344C/T polymorphism of CYP11B2 with blood pressure in European populations

et al. 2007

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Age- and gender-dependent association of the –344C/T polymorphism of CYP11B2 with blood pressure in European populations

et al. 2007

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“…WNK4 is expressed almost exclusively in the kidney, where it localizes to the distal convoluted tubule and the cortical collecting duct, more specifically to the intracellular junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical collecting duct. 6 Although essential hypertension clearly differs from rare monogenetic hypertensive disorders, genes for the latter have previously been implicated in the former, eg, the positive association findings with essential hypertension for single nucleotide polymorphisms (SNPs) of the aldosterone synthase gene 7,8 (a severe mutation of which was originally implicated in the rare hypertensive condition glucocorticoid-remediable aldosteronism 9,10 ) and also of the epithelial sodium channel [11][12][13] (severe mutations of which have been implicated in Liddle's syndrome 10,13,14 ).…”

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WNK4 Intron 10 Polymorphism Is Not Associated With Hypertension

Speirs

Morris

2004

Hypertension

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Abstract-A polymorphism in intron 10 of the serine-threonine kinase with no lysine (K) 4 gene WNK4 (G3 A, base 1156666 on chromosome 17) has recently been associated with essential hypertension in a white American population.We have attempted to replicate this finding in a well characterized cohort of 184 unrelated hypertensive Australians of British extraction in which biological power was enhanced by them each having 2 hypertensive parents. Controls were 219 normotensive ethnically matched subjects whose parents were both normotensive. Genotyping was performed using the homogeneous MassEXTEND Assay. This showed a frequency of 0.10 for the minor allele in each group (Pϭ0.88).Moreover, blood pressure, body mass index, sex, and plasma lipid levels were similar across genotypes. In conclusion, our study provides no support for an association of the intron 10 variant of WNK4 with essential hypertension in the Anglo-Australian population studied.

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“…They suggest that the rs1799998 variant in CYP11B2 affects susceptibility to stroke. In an Indian population, significant associations were found between the rs1799998 SNP of CYP11B2 and the risk of hypertension and IS (32).…”

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Association between cytochrome P450 promoter polymorphisms and ischemic stroke

Kim

Yim

Lee

2011

Experimental and Therapeutic Medicine

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Abstract. The human cytochrome P450 (CYP) superfamily includes at least 57 genes that encode enzymes with diverse metabolic and biosynthetic functions. This study was conducted in order to investigate the associations between polymorphisms in CYP superfamily genes (CYP11B2, CYP17A1, CYP2B6, CYP2C9, CYP2E1 and CYP7A1) and ischemic stroke (IS). Six single nucleotide polymorphisms (SNPs) of CYP superfamily genes were selected and genotyped by direct sequencing in 121 patients with IS and 321 control subjects. The genetic data were analyzed using SNPStats and SPSS 18.0. Multiple logistic regression models (codominant 1, codominant 2, dominant, recessive and log-additive) were used to evaluate odds ratios (ORs), 95% confidence intervals (CIs) and p-values. The rs179998 SNP of CYP11B2 was significantly associated with IS (p=0.0336 in a log-additive model). The rs3813867 SNP of CYP2E1 was significantly associated with smoking in IS (p=0.0336 in a log-additive model). The rs1799998 SNP of CYP11B2 and rs3808607 of CYP7A1 were related to diabetes mellitus in IS (p<0.05). CYP11B2, CYP2E1 and CYP7A1 SNPs were associated with IS in the population studied. Further study is required to confirm these associations and to determine their biological significance.

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Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension

Abstract: 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. This was reinforced by haplotype analysis.

Cited by 69 publications

References 41 publications

Age- and gender-dependent association of the –344C/T polymorphism of CYP11B2 with blood pressure in European populations

Age- and gender-dependent association of the –344C/T polymorphism of CYP11B2 with blood pressure in European populations

WNK4 Intron 10 Polymorphism Is Not Associated With Hypertension

Association between cytochrome P450 promoter polymorphisms and ischemic stroke

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