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目的 研究亚甲基四氢叶酸还原酶 (MTHFR)基因 6 77C/T多态性与糖尿病大血管并发症 (脑梗死和冠心病 )之间的关系。方法 在 4 16例中国人受试者中 :大血管病变患者 (AS组 ,即脑梗死亚组和冠心病亚组总和 ) 2 16例 ,其中脑梗死亚组 (CI) 111例 ,该亚组中伴及不伴糖尿病患者分别为5 0例及 6 1例 ;冠心病亚组 (CHD) 10 5例 ,该亚组中伴及不伴糖尿病患者分别为 4 8例及 5 7例。糖尿病无大血管病变者 (DM) 10 0例 ,正常对照 (C) 10 0例。研究方法采用PCR/酶解鉴定基因变异及群体关联分析。结果 在大血管病变组中MTHFR基因的 6 77C/T的TT基因型和T等位基因频率显著增高。Logistic回归分析表明MTHFR基因参与大血管病变 (AS)的致病过程。大血管病变各组内糖尿病和非糖尿病两亚组间相互比较基因型频率差异没有显著性。大血管病变不同亚组按有无糖尿病及性别分层后可见高密度脂蛋白胆固醇及舒张压水平随基因型不同而差异有显著性。结论 在中国人中 ,不论有无糖尿病 ,MTHFR基因均参与大血管病变 (脑梗死或冠心病 )的致病过程。
Objective To investigate the association of 677C / T polymorphism in methylenetetrahydrofolate reductase (MTHFR) gene with macrovascular complications of diabetes mellitus (cerebral infarction and coronary heart disease). Methods Twenty-six Chinese subjects were enrolled in this study. Twenty-one of 16 patients with macro-vascular disease (AS group, the sum of cerebral infarction subgroup and coronary heart disease subgroup), including 111 cerebral infarction subgroups (CI) Fifty and 61 patients with and without concomitant diabetes mellitus were enrolled in the study. A total of 105 CHD patients were enrolled in this study. Forty-eight patients with and without diabetes were enrolled in this study. One hundred and ten cases of diabetes mellitus without macrovascular disease (DM) and 100 cases of normal control (C). Research Methods PCR / enzymatic identification of genetic variation and population association analysis. Results The frequency of TT genotype and T allele of 677C / T of MTHFR gene was significantly increased in the macrovascular disease group. Logistic regression analysis showed that MTHFR gene is involved in the pathogenesis of macroangiopathy (AS). There was no significant difference in the frequency of genotypes between the two subgroups of diabetic and nondiabetic groups in the macrovascular disease group. In different subgroups of macrovascular disease, high-density lipoprotein cholesterol and diastolic blood pressure were significantly different with different genotypes after being stratified by diabetes and sex. Conclusions MTHFR genes are involved in the pathogenesis of macroangiopathy (cerebral infarction or coronary heart disease) in Chinese, with or without diabetes.