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目的 :探讨亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase,MTHFR)基因多态性与中国人 2型糖尿病肾病的关系。 方法 :运用PCR RFLP检测 2 6 3例中国人 [2 0 6例为 2型糖尿病 (DM) ,其中 12 2例合并糖尿病肾病 (DN) ,76例合并糖尿病视网膜病 ,5 7例为正常对照组 ]MTHFR基因C6 77T位碱基突变 ,比较各组间等位基因频率和基因型频率。 结果 : (1) 2型DM合并DN组TT基因型频率及T等位基因频率明显高于不伴有DN的2型DM组 (分别 2 5 0 %vs 19 1% ,P <0 0 5 ;49 6 %vs 37 8% ,P <0 0 5 )及正常对照组 (分别 2 5 0 %vs 17 5 % ,P <0 0 1;49 6 %vs 31 6 % ,P <0 0 1) ,不伴DN的 2型DM组与正常对照组相比 ,TT基因型频率 (19 1%vs 17 5 % ,P >0 0 5 )及T等位基因频率 (37 8%vs 31 6 % ,P >0 0 5 )差异不明显。 (2 ) 2型DM合并视网膜病组与无视网膜病变者及正常对照组相比 ,TT基因型频率 (分别 2 5 0 %vs 2 0 8% ,P <0 0 5 ;2 5 0 %vs 17 5 % ,P <0 0 1)及T等位基因频率(分别 5 1 3%vs 40 0 % ,P <0 0 5 ;5 1 3%vs 31 6 % ,P <0 0 1)明显升高。 结论 :MTHFR基因C6 77T碱基突变是促进中国汉族人 2型DM患者并发DN的危险因子 ,突变T等位基因是DN的易感基因。
Objective: To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and Chinese type 2 diabetic nephropathy. Methods: A total of 263 Chinese patients were enrolled in this study. Twenty-six patients with type 2 diabetes (DM) were enrolled in this study. Of these, 122 were diabetic nephropathy (DN), 76 were diabetic retinopathy, and 57 were normal controls ] MTHFR gene C677T base mutation, comparing the allele frequencies and genotype frequencies between groups. Results: (1) TT genotype frequency and T allele frequency were significantly higher in DM type 2 DM group than DM type 2 DM group (25.0% vs 19.1%, P <0.05, respectively; 49 6% vs 37 8%, P 0 05, respectively) and the normal control group (25 0% vs 17 5%, P 0 01; 49 6% vs 31 6%, P 0 01, respectively) The frequency of TT genotype (19 1% vs 17 5%, P 0 05) and T allele frequency (37 8% vs 31 6%, P > 0 0 5) The difference is not obvious. (2) The frequency of TT genotypes in type 2 diabetic retinopathy with or without retinopathy and normal controls (25% vs 208%, P <0 05; 25 0% vs 17 5%, P <0.01) and T allele frequencies (51.3% vs 40.0%, P <0.05, 51.3% vs 31.6%, P <0.01) . CONCLUSION: The C677T base mutation of MTHFR gene is a risk factor for DN in patients with type 2 DM in Chinese Han population. Mutant T allele is a susceptibility gene of DN.