亚甲基四氢叶酸还原酶基因677C/T多态性与上海地区2型糖尿病合并大血管并发症的关系  

Association between 677C/T polymorphism of methylenetetrahydrofolate reductase gene and type 2 diabetes with macrovascular complications in Shanghai

作　　者：张国栋[1] 项坤三[1] 翁青[1] 李杰[1] 

机构地区：[1]上海市第六人民医院内分泌科,上海市糖尿病研究所200233

出　　处：《中华内分泌代谢杂志》2002年第5期362-365,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：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 explore the relationship between 677C/T polymorphism of methy lenetetrahydrofolate reductase (MTHFR) gene and diabetic macrovascular complications (including cerebral infarction and coronary heart disease) in Shanghai.Methods Among 416 Chinese subjects, 216 were in macrovascular disease group 〔the atherosclerosis (AS) group〕 which included cerebral infarction (CI) subgroup consisting of 111 subjects (50 cases with and 61 without diabetes) and coronary heart disease (CHD) subgroup consisting of 105 subjects (48 with and 57 without diabetes); 100 subjects were in diabetes group without macrovascular disease (DM); and 100 normal subjects in control group (C). Genotypes were determined by PCR/restriction enzyme digestion and the relationship between 677C/T polymorphism and diabetic macrovascular complications was studied by population based association analysis. Results The frequencies of MTHFR TT genotype and T allele were significantly higher in macrovascular disease group. Logistic regression analysis showed that MTHFR gene was a potential contributor to AS. Comparison of genotype frequencies between diabetic and non diabetic subgroups in macrovascular disease group revealed no difference. Significant difference of high density lipoprotein cholesterol and diastolic blood pressure between different genotype subgroups was observed within some macrovascular disease groups after stratification by sex and diabetes. Conclusion MTHFR contributes to the development of macroangiopathy (cerebral infarction and coronary heart disease) whether associated with type 2 diabetes or not in Shanghai district.

关 键 词：2型糖尿病 糖尿病血管病 动脉硬化 亚甲四氢叶酸还原酶 遗传学 MTHFR 

分 类 号：R587.1[医药卫生—内分泌]