ET-1基因突变位点的组合分析与原发性高血压病的关系

Correlation between essential hypertension and mutation of three polymorphic loci of ET-1 gene

目的:了解内皮素-1(ET-1)基因138A/-、K198N、G8002A3个突变位点多态性组合与海南汉族原发性高血压(EH)的关系。方法:应用等位基因特异性PCR技术,对201例海南汉族EH患者及311例海南汉族正常对照组ET-1基因多态性位点进行检测,利用统计学方法分析3个位点多态性组合与EH的关系。结果:138A/-、K198N、G8002A多态位点分别可检测出4A/4A、4A/3A、3A/3A3种基因型,GG、GT、TT 3种基因型和GG、GA、AA 3种基因型。多态位点组合分析发现有两组基因型4A3AGG-GG、3A3A-GG-GG在病例组中出现的频率远大于对照组;两组基因型4A4A-GT-GG、4A3A-GTGG在对照组中出现的频率大于病例组,差异均具有统计学意义(P<0.05)。结论:4A3A-GG-GG和3A3A-GG-GG这两组基因型串联可能会增加高血压的发病几率,4A4A-GT-GG和4A3A-GT-GG这两组基因型串联可能会降低高血压的发病几率。

Objective： To understand the correlations between essential hypertension （EH） and three-mutation-loci polymorphism 138A/-,K198N and G8002A of ET-1 gene in Han ethnic people of Hainan province. Methods：The three polymorphic loci of ET-1 gene were probed with an allele specific-PCR in 311 healthy controls and 201 EH patients of Han ethnic in Hainan province. The correlations between EH and the combination analysis of the three mutation loci at ET-1 gene were analyzed by statistical method： Results： The 138A/- locus was detected in 4A/4A,4A/3A and 3A/3A three genotypes in both the healthy controls and the EH patients. The K198N locus was detected in GG,GT and TT three genotypes in both the healthy controls and the EH patients. The GS002A locus was detected in GG,GA and AA three genotypes in both the healthy controls and the EH patients. Combination analysis of the three mutation loci at ET-1 gene indicates that frequency of 4A3A-GG-GG（x2 = 21. 947,P〈0. 001） in case group was higher than that in the control group. Conclusion：ET-1 genes of 4A3A-GG-GG poly- morphism may promote the frequency of EH.