海南黎族、汉族高血压ACE基因多态性相关性研究

目的 研究海南黎族、汉族高血压ACE基因多态性的相关性.方法 采用聚合酶链反应(PCR)检测,对海南黎族111例高血压患者、146例黎族正常人、海南汉族106例高血压患者、97例汉族正常人的ACE基因插入/缺失(I/D)多态性检测,观察DD、DI、II基因型频率及等位基因频率,并对所有普通PCR定为DD型的样本进行插入特异性PCR检测,以减少误分型率.并调查经典危险因素.结果 海南黎族高血压组DD、DI、II基因频率分别为10.8%、37.8%、51.4%;D及I等位基因频率分别为29.7%、70.3%.正常对照组DD、DI、II基因型频率分别为13.0%、43.8%、43.2%;D及I等位基因频率分别为34.9%、65.1%.两组之间DD、DI、II基因型频率及D、I等位基因频率均无显著性差异.汉族高血压DD、DI、II基因频率为16.0%、28.3%、55.7%;D及I等位基因频率分别为30.2%、69.8%.汉族正常人DD、DI、II基因频率15.5%、44.3%、40.2%,D及I等位基因频率分别为37.6%、62.4%.两组之间DD、DI、II基因型频率及D、I等位基因频率有显著性差异(P＜0.05).黎族、汉族高血压组与正常对照组比较,体重指数(BMI)、总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)有显著性差异(P＜0.05);黎族高血压组收缩压,舒张压与正常对照组有显著性差异(P＜0.05);汉族高血压组收缩压、舒张压与正常对照组有显著性差异(P＜0.05).结论 在海南黎族高血压和黎族正常人的D等位基因频率均比I等位基因频率低;ACE基因I/D多态性与黎族高血压无显著关联;海南汉族高血压和汉族正常人D等位基因频率均比I等位基因频率低;ACE基因I/D多态性与汉族高血压的发病有相关性,是汉族高血压的主要致病基因,早期应用血管紧张素转化酶抑制剂的治疗干预.

A Correlational Study of ACE Gene Polymorphisms with Hypertension in Hainan Li Nationality and Han Nationality

Objective To study the correlation of ACE gene polymorphisms with Hypertension in Hainan Li Nationality and Han Nationality.Methods Used PCR to detect the polymorphisms of ACE gene insertion/deletion (I/D) in 111 patients with hypertension and 146 healthy people from Hainan Li nationality, and 106 patients with hypertension and 97 healthy people from Hainan Han nationality, and investigated the genotype frequencies and allele frequencies of DD, DI and II. Furthermore, used insertion-specific PCR to test all subjects with that DD genotype had been determined by common PCR in order to reduce any wrong-classification rate. Classic risk factors were investigated also.Results In the hypertension group of Hainan Li nationality, the genotype frequencies of DD, DI and II were 10.8%, 37.8% and 51.4% respectively, and the allele frequencies of D and I were 29.7% and 70.3% respectively. In the healthy control of Hainan Li nationality, the genotype frequencies of DD, DI and II were 13.0%, 43.8% and 43.2% respectively, and the allele frequencies of D and I were 34.9% and 65.1% respectively. There were no significant differences both in the genotype frequencies of DD, DI and II, and in allele frequencies D and I between these two groups. In the hypertension group of Hainan Han nationality, the genotype frequencies of DD, DI and II were 16.0%, 28.3% and 55.7% respectively, but the allele frequencies D and I were 30.2% and 69.8% respectively. In the healthy control of Hainan Han nationality, the genotype frequencies of DD, DI and II were 15.5%, 44.3% and 40.2% respectively, and the allele frequencies of D and I were 37.6% and 62.4% respectively. There were significant differences both in the genotype frequencies of DD, DI and II, and in the allele frequencies of D and I between these two groups (P<0.05). There were significant differences in body mass index (BMI), total serum cholesterol (TC), triglyceride (TG), and LDL-C between the hypertension group and its healthy control of Hainan Li nationality or Han nationality (P<0.05). There were significant differences in systolic pressure and diastolic pressure between the hypertension group and the healthy control of both Li nationality and Han nationality (P<0.05).Conclusions Both in patients with hypertension and in healthy people of Hainan Li nationality, the frequency of D allele is less than the frequency of I allele. There is no remarkable correlation between ACE gene I/D polymorphisms and hypertension in Li nationality. In both patients with hypertension and healthy people of Hainan Han nationality, the frequency of D allele is less than the frequency of I allele. The ACE gene I/D polymorphisms are correlated with hypertension in Hainan Han nationality. It is the major gene that causes hypertension in Han nationality. Earlier treatment intervention with ACE inhibitors should be advised.