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目的 研究中国人群 2型糖尿病患者中 ,亚甲基四氢叶酸还原酶 (methylenetetra-hydrofolate reductase,MTHFR)基因 6 77C→ T突变与糖尿病微血管病的关系。方法 将 16 8名研究对象分为正常对照组、糖尿病和糖尿病微血管病 (diabetic microangiopathy,DMA)组 ,采用 PCR- RFL P检测各组 MTHFR6 77C→ T突变 ,统计各组对象的突变频率。结果 与无糖尿病微血管病患者和正常人相比 ,糖尿病微血管病患者 MTHFR6 77C→ T(T/ T基因型 )突变频率更高 (2 2 .6 % vs6 .7%和 5 .5 % ,P<0 .0 1) ,MTHFRT/T基因型对 DMA的 OR值为 3.36 ,P<0 .0 0 1。结论 糖尿病患者中 MTHFR6 77C→T突变为其发生微血管病的一种遗传易感因素。
Objective To investigate the relationship between 677C → T mutation in methylenetetra-hydrofolate reductase (MTHFR) gene and diabetic microangiopathy in Chinese patients with type 2 diabetes mellitus. Methods 168 subjects were divided into normal control group, diabetes mellitus and diabetic microangiopathy (DMA) group. The MTHFR6 77C → T mutation was detected by PCR-RFLP, and the mutation frequency of each group was calculated. Results MTHFR677C → T (T / T genotype) mutations were more frequent in patients with diabetic microangiopathy compared with non-diabetic microangiopathy and normal subjects (22.6% vs6.7% vs5.5%, P < 0 .0 1), OR of MTHFRT / T genotype to DMA was 3.36, P <0.001. Conclusions MTHFR677C → T mutation in diabetic patients is a genetic predisposition to microvascular disease.