亚甲基四氢叶酸还原酶基因多态性与糖尿病微血管并发症相关性研究

目的：探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与中国人2型糖尿病微血管并发症的关系。方法：运用PCR—RFLP检测263例中国人(206例为2型糖尿病，其中148例合并肾病或视网膜病变，57例为正常对照组)MTHFR基因C677T位碱其突变，比较各组间等位基因频率和基因型频率。结果：(1)同时合并肾病和视网膜病变的2型糖尿病组与无微血管并发症的2型糖尿病组及正常对照组相比，TT基因型频率显著增加，突变等位基因T频率也明显升高。(2)2型糖尿病合并肾病组TT基因型频率及T等位基因频率明显高于不伴有肾病的2型糖尿病组及正常对照组。(3)2型糖尿病合并视网膜病组与无视网膜病的2型糖尿病及正常对照组相比，TT基因型频率及T等位基因频率明显升高。结论：MTHFR基因C677T碱基突变是促进中国人2型糖尿病患者并发微血管并发症的危险因子，突变T等位基因是糖尿病微血管并发症的易感基因。

A study of association of polymorphism of methylenetetrahydrofolate reductase gene and diabetic microangiopathy

Objective To investigate the association between genetic polymorphism of methylenetetrahydrofolate reductase(MTHFR)C677T and diabetic microangiopathy in Chinese population.Methods A case-control study for 263 Chinese subjects(including 206 type 2 diabetes mellitums with or without nephropathy or retinopathy and 57 normal control subjects) was performed.The genetic polymorphism of MTHFR C677T was determined by PCR-RFLP.Results (1)The frequencies of TT genotype and T allele in type 2 diabetes mellitus with both nephropathy and retinopathy were significantly higher than those in type 2 diabetes mellitus without microangiopathyand normal control group.(2)Elevated frequencies of TT genotype and T allele were observed in type 2 diabetes mellitus with nephropathy as compared with type 2 diabetes mellitus without nephropathy and normal control group.(3)In type 2 diabetes mellitus with retinopathy,the increased frequencies of TT genotype and T allele were observed in comparison with type 2 diabetes mellitus without retinopathy and normal control group.Conclusion The genetic polymorphism of MTHFR C677T are associated with the development of diabetic microangiopathy.The T allele may be a risk factor for developing microangiopathy in type 2 diabetes mellitus.