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209275 Association of polymorphisms in aldosterone synthase and 11 beta-hydroxylase genes with the risk of primary aldosteronism/Zhang Guoxi(Dept Urol,Tongji Hosp,Tongji Med Col,Huazhong Univ Science Techno,Wuhan 430030)…∥Chin J Urol.-2009,30(3).-176~180Objective To determine the association of mutations in aldosterone synthase(CYP11B2)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 assocication between polymorphisms and PA.Results All the selected mutations were successfully genetyped.Only rs6410 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,and body mass index(OR=4.06,95% CI 1.31-12.66;OR=2.41,95% CI 1.02-5.72).One susceptible 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 GCAWT showed significant difference between patients with APA and controls(OR=0.73,95% CI 0.55-0.97).