亚甲基四氢叶酸还原酶基因多态性与心肌梗死的相关研究

Association study of methylenetetrahydrofolate reductase polymorphism with myocardial infarction in Chinese

目的 了解亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase ,MTHFR)基因C6 77T位点突变在中国人群中的频率及其与心肌梗死 (心梗 )是否相关。方法 选择了 15 3例住院心梗患者及 15 6例住院的非心血管病患者作为对照 ,抽取外周静脉血提取DNA ,同时所有研究对象记录其病史 ,体检等临床资料及吸烟 ,饮酒等流行病学资料 ,应用PCR RFLP进行基因型分析。结果 C等位基因和T等位基因频率在心梗组和对照组分别为 0 42和 0 5 8。基因型频率分布符合Hardy Weinberg平衡。多因素分析显示 :MTHFR基因TT基因型 ,高血压 ,糖尿病和肥胖均与心梗相关 ,TT基因型的比值比为 2 0 5 (95 %可信区间 1 0 5～ 3 90 )。而且在现在不吸烟者中和正常血压者中这一相关更为显著。结论 在所研究的人群中 ,MTHFR基因TT基因型是心肌梗死的一个独立危险因素。

Objective To examine the methylenetetrahydrofolate reductase (MTHFR) C677T mutation in Chinese population and the association of this mutation with myocardial infarction. Methods Using PCR RFLP, MTHFR C677T genotyping was performed in 153 patients with myocardial infarction and 156 controls. Data of medical history, physical examination were also collected. Results Allele frequency of C and T allele were 0 42 and 0 58 in the myocardial infarction group, and 0 50 and 0 50 in controls, respectively. The distribution of genotype was in Hardy Weinberg equilibrium. Multiple logistic analysis showed that together with hypertension, diabetes mellitus and obesity, MTHFR TT genotype is in association with myocardial infarction. This association was strengthened in subpopulation of current nonsmokers and normotensives. Conclusion MTHFR TT genotype is an independent risk factor for myocardial infarction in the studied population.