血管紧张素转化酶基因插入/缺失多态性与冠心病发病的关系

Association between I/D genetic polymorphyism of angiotensin converting enzyme and the risk of coronary artery disease

目的 :探讨血管紧张素转化酶 (ACE)基因多态性与冠心病 (CHD)发病的关系。方法 :以人基因组DNA为模板 ,应用聚合酶链式反应 (PCR)检测 5 0例CHD组和 5 6例正常对照组ACE基因第 16内含子插入 /缺失 (I/D)多态性 ,并按性别分组计算各组基因型和等位基因频率。结果 :①在CHD组中 ,ACE基因DD基因型和D等位基因频率分别为 36 %和 6 0 % ,正常对照组分别为 16 %和 4 1% ,两者相比差异有统计学意义 (P <0 .0 1)。②男性CHD组DD基因型和D等位基因频率均显著高于对照组 (均P <0 .0 5 )。女性CHD组DD基因型频率显著高于对照组 (P <0 .0 1) ,D等位基因频率与对照组比较差异无统计学意义。结论 :CHD与ACE基因I/D多态性有显著相关性 ,不论男性和女性 ,ACE基因DD基因型均可能是CHD发生发展过程中重要的危险因素之一。

Objective:To assess whether the I/D genetic polymorphism of angiotensin converting enzyme is the risk of coronary heart disease (CHD).Method:Blood was drawn and DNA extracted in 50 CHD patients and 56 CHD-free control persons, the D and I alleles of ACE were amplified by PCR technique.the ACE genotypes and their allele frequencies of each group were calculated in men and women respectively, and were compared.Result:The frequencies of DD genotype and D allele were significantly higher in CHD group than that in control group (P< 0.01). In men, the frequencies of DD genotype and D allele were significantly higher in CHD group than that in control group (P< 0.05); In women, the frequencies of DD genotype were significantly higher in CHD group than in control group (P< 0.01), but the D allele frequencies had no significant difference between CHD group and control group.Conclusion:There is a strong correlation between the I/D genetic polymorphism of angiotensin converting enzyme and coronary heart disease, the DD genotype of ACE gene might be an important risk of CHD.