Association of Lys173Arg Polymorphism with<i>CYP11B2</i>Expression in Normal Adrenal Glands and Aldosterone-Producing Adenomas

Tanahashi, Hiromichi; Mune, Tomoatsu; Takahashi, Yūzō; Isaji, Mako; Suwa, Tetsuya; Morita, Hiroyuki; Yamakita, Noriyoshi; Deguchi, Takashi; White, Perrin C.; Takeda, Jun

doi:10.1210/jc.2005-0299

Cited by 29 publications

(17 citation statements)

References 26 publications

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“…Higher aldosterone synthase gene expression and elevation of blood pressure were reported in a case of mice fed with high salt diet (Makhanova et al, 2008). In another report, CYP11B2 gene polymorphism was associated with higher gene expression in -344C/R173 haplotype (Tanahashi et al, 2005). The association of RAAS genes encoding renin (Mohana Vamsi et al, 2013), angiotensinogen (Srivastava et al, 2012a), angiotensinconverting enzyme (Srivastava et al, 2012b;Chandra et al, 2014a), angiotensin II type 1 receptor (Chandra et al, 2014b), and aldosterone synthase (CYP11B2) (Rajan et al, 2010) with essential hypertension has been recently studied in the Indian population.…”

Section: Introductionmentioning

confidence: 90%

Atrial natriuretic peptide and aldosterone synthase gene in essential hypertension: A case–control study

Chandra

Saluja

Narang

et al. 2015

Gene

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Section: Introductionmentioning

confidence: 90%

Atrial natriuretic peptide and aldosterone synthase gene in essential hypertension: A case–control study

Chandra

Saluja

Narang

et al. 2015

Gene

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“…After an extensive selection according to the inclusion criteria (Fig. 1), seven studies [14][15][16][17][18][19][20] (621 cases and 1027 controls) on T-344C polymorphism, three studies [18,20,21] (327 cases and 336 controls) on A2718G polymorphism were included for meta-analyses. Detailed characteristics of the eight eligible studies and the genotype distributions of the two tested polymorphisms were listed in Table 1.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

Association of CYP11B2 polymorphisms with susceptibility to primary aldosteronism: a meta-analysis

et al. 2013

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PRIMARY ALDOSTERONISM (PA) is characterized by overproduction of the mineralocorticoid hormone aldosterone by adrenal glands. According to recent reports, it appears to be the most common cause of secondary persistent hypertension, and may account for about 8~13% of unselected hypertensives [1] and as high as 20% of resistant hypertensives [2,3]. The inappropriately high production of aldosterone causes suppression of plasma renin, sodium retention, hypertension, cardiovascular damage, and potassium excretion [4]. Elevated blood pressure combined with the proinflammatory and profibrotic effects of aldosterone To date, although the genetic basis of familial hyperaldosteronism has been more clearly, the exact pathogenesis of sporadic forms of the disease remains unknown. Among a number of studied susceptibility genes, the aldosterone synthase gene (CYP11B2) is the most commonly studied. The CYP11B2 gene situates on chromosome 8q24.3 and encodes aldosterone synthase, which is the key rate-limiting enzyme for the final stage of aldosterone synthesis pathway and pri- Original

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“…This is based on the evidence suggesting functional relevance or reports of association with hypertension. [11][12][13]17 Two SNPs span the CYP11B2 gene: rs1799998 in the promoter region (also known in previous publications as C-344T or SF-1) and rs4539 in the third exon (also known as A2718G or K173R). Two SNPs span the CYP11B1 gene: rs 6410 (G225A) in the first exon and rs6387 (A2803G) in the third intron.…”

Section: Genotypingmentioning

confidence: 99%

“…9,10 Inglis et al 11 found that the frequencies of the rs1799998T allele and the intron 2 conversion allele in the CYP11B2 gene were markedly higher in Conn's syndrome group than in the normal control group, which demonstrated that the relative genotypes may predispose the tumor to aldosterone production. Tanahashi et al 12 considered that a CYP11B2 haplotype, including À344T and K173 in APA, was associated with a higher gene expression than the À344C/R173 haplotype.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism

et al. 2010

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Several frequent polymorphisms in the CYP11B2 gene are suggested to be associated with essential hypertension and aldosterone secretion. In this study, we investigated the association of polymorphisms in CYP11B2 and CYP11B1 genes with the risk of primary hyperaldosteronism (PH). Three polymorphisms in the CYP11B2 gene (intron 2 conversion, rs1799998 and rs4539) and two polymorphisms in the CYP11B1 gene (rs6410 and rs6387) were analyzed in patients with PH and in the normal population. The rs6410 allelic frequencies in patients with aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA) were significantly different from those in controls at P¼1.09Â10 À5 and 0.015, respectively. There was a relative excess of AA homozygotes and AG heterozygotes of the rs6410 allele in the APA group as compared with the control group (P¼2.19Â10 À4 ). There were significantly different genotypes, AA and AG, of the rs6410 allele between the patients with IHA and the controls only after adjustments for age, gender and body mass index (odds ratio (OR)¼4.06, 95% confidence interval (CI) 1.31-12.66; OR¼2.41, 95% CI 1.02-5.72). One susceptible haplotype, AAAWT, was identified to be significantly associated with APA (OR¼1.44, 95% CI 1.19-1.76), and three susceptible haplotypes, AAAWT, AGGWT and AGAWC, were identified to be significantly associated with IHA (OR¼1.55, 95% CI 1.23-1.96; OR¼1.49, 95% CI 1.17-1.89; OR¼1.40, 95% CI 1.04-1.88). In contrast, one protective haplotype, GGAWT, showed a significant difference between the patients with APA and controls (OR¼0.73, 95% CI 0.55-0.97). Several haplotypes were associated with ARR in both the controls and cases. Our data demonstrated that there was a significant association between polymorphisms in the CYP11B2 and CYP11B1 genes and a genetic predisposition to PH. The association with IHA seemed closer compared with APA.

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Association of Lys173Arg Polymorphism withCYP11B2Expression in Normal Adrenal Glands and Aldosterone-Producing Adenomas

Abstract: A CYP11B2 haplotype including -344T and K173 is associated with higher gene expression than the -344C/R173 haplotype, supporting reported associations of -344T with higher aldosterone production and blood pressure.

Cited by 29 publications

References 26 publications

Atrial natriuretic peptide and aldosterone synthase gene in essential hypertension: A case–control study

Atrial natriuretic peptide and aldosterone synthase gene in essential hypertension: A case–control study

Association of CYP11B2 polymorphisms with susceptibility to primary aldosteronism: a meta-analysis

Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism

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