海南汉族冠心病与血管紧张素转换酶基因多态性的相关性

Correlation of ACE gene polymorphisms with coronary heart disease in Han nationality in Hainan Province

目的研究海南汉族冠心病与血管紧张素转换酶基因多态性的关系。方法采用聚合酶链反应(PCR)技术,对海南汉族150例冠心病患者和150例汉族正常人的血管紧张素转换酶(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型的样本进入特异性PCR检测,以减少误分型率。结果冠心病DD,DI,II基因的频率分别是23.3%,45.4%,31.3%;D及I等位基因频率分别为46.0%,54.0%。正常对照组DD、DI、II基因型频率分别为13.3%,42.0%,44.7%,D及I等位基因频率分别为34.3%,65.7%;两组之间的DD、DI、II基因频率及D、I等位基因频率均有显著性差异(P<0.05)。冠心病组与正常对照组比较,在年龄、血压、体重指数(BMI),胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C),无显著性差异(P>0.05),汉族CHD组性别与正常对照组比较有显著性差异(P<0.05)。汉族CHD组、甘油三酯(TG)高于对照组,高密度脂蛋白胆固醇(HDL-C)低于汉族对照组(P<0.05)。结论血管紧张素转换酶I/D多态性与汉族冠心病有显著关联,是汉族冠心病的主要致病基因,ACE缺失多态性是汉族的独立危险因素。

Objective To investigate the correlation of the angiotensin converting enzyme （ACE） gene polymorphisms with coronary heart disease （CHD） in Hainan Han nationality. Methods Polymerase chain reaction （PCR） was used to detect the polymorphisms of ACE gene insertion /deletion （I/D） in 150 patients with CHD and 150 healthy people from Hainan Han nationality. The genotype frequencies and allele frequencies of DD, DI and II were observed. Specific PCR detection was performed for patients who have been determined as DD by normal PCR to reduce misclassification rate. Results In the CHD group of Hainan Han nationality, the genotype frequencies of DD, DI and II were 23.3% ,45.4%, 31.3% respectively, and the allele frequencies of D and I were 46.0% and 54.0%. In the healthy control of Hainan Han nationality, the genotype frequencies of DD, DI and II were 13.3% ,42.0% ,44.7% respectively, and the allele frequencies of D and I were 34.3% and 65.7%. There were significant differences both in the genotype frequencies of DD, DI and II, and in allele frequencies D and I between these two groups （P〈0.05）. There were no significant differences in the age, the blood pressure, the body mass index （BM I）, the total serum cholesterol （TC） and the low density lipoprotein cholesterol （LDL-C） between these two groups （P〉0.05）. There was significant differences in the sex between these two groups （P〈0.05）. The triglycefide （TG） level in the CHD group was significantly higher than in the control （P〈0.05）. The high density lipoprotein cholesterol （HDL-C） level in the CHD group was significantly lower than the control （P〈0.05）. Conclusions There were notable correlation between the ACE gene I/D polymorphisms and the CHD in Hainan Hart nationality. The ACE gene polymorphisms are the major gene that causes CHD in Hainan Han nationality. It may be the independent risk factor in CHD in Hainan Han nationality.