Association of polymorphisms in aldosterone synthase and 11 beta-hydroxylase genes with the risk of primary aldosteronism
10.3760/cma.j.issn.1000-6702.2009.03.010
- VernacularTitle:醛固酮合酶和11-β羟化酶基因多态性与原发性醛固酮增多症发病风险的相关性研究
- Author:
Guoxi ZHANG
;
Jinzhi OUYANG
;
Baojun WANG
;
Xiyuan DENG
;
Chao WANG
;
Taoping SHI
;
Zhenghua JU
;
Hua XU
;
Xin MA
;
Hongzhao LI
;
Zhun WU
;
Shuanglin LIU
;
Xu ZHANG
- Publication Type:Journal Article
- Keywords:
Primary aldosteronism;
Aldosterone synthase;
11 beta-hydroxylase;
Polymorphisms
- From:
Chinese Journal of Urology
2009;30(3):176-180
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the association of mutations in aldosterone synthase (CYPllB2)and 11 beta-hydroxylase(CYP11B1)genes with primary aldosteronism(PA).Methods Five mutations of CYP11B2 and CYP11B1 genes were analyzed in patients with PA and normal population.Among them,intron 2 was detected by 2 independent PCR reactions,and the others were analyzed using Taqman probes.The Haploview 4.0,SNPassoc 1.5-3 and Haplo.stats 1.3.8 were used to analyse the association between polymorphisms and PA.Results All the selected mutations were successfully genetyped.Only rs64lO allelic frequencies in patients with aldosterone-producing adenoma (APA)and idiopathic hyperaldosteronism(IHA)were significantly different with those in controls (P＜0.05).There was a relative excess of AA homozygotes and AG heterozygotes of rs6410 allele in APA group compared with control group(P＜0.01).There were significantly different genotypes AA and AG of rs6410 allele between patients with IHA and controls only after adjusted for age,gender,eeptible haplotype AAAWT was identified to be significantly associated with APA(OR=1.44,95%CI 1.19-1.76).Three susceptible haplotypes AAAWT,AGGWT and AGAWC were identified to be significantly associated with IHA(OR=1.55,95%CI 1.23-1.96;OR=1.49,95%CI 1.17-1.89;OR=1.40,95%CI 1.04-1.88).In contrast,1 protective haplotype GGAWT showed significant difference between patients with APA and controls(OR=0.73,95%CI 0.55-0.97).Conclusion There is a significant association between genetic variations in CYP11B2 and CYP11B1 genes and genetie predisposition to PA.
