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目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点、内皮型一氧化氮合酶(eNOS)基因G894T位点与糖尿病肾病的关系。方法:运用PCR-RFLP检测2型糖尿病合并糖尿病肾病者60例(DN+组)、2型糖尿病不伴糖尿病肾病者60例(DN-组)、60例健康对照组(NC组)的MTHFR、eNOS基因型,比较各组间等位基因频率和基因型频率。结果:(1)MTHFR基因C677T位点DN+组TT基因型频率及T等位基因频率明显高于DN-组及NC组(P<0.05);(2)eNOS基因G894T位点DN+组T等位基因频率明显高于DN-组及NC组(P<0.05);(3)MTHFR基因C677T位点的TT基因型与eNOS基因G894T位点的TG基因型在2型糖尿病肾病方面具有协同作用(P<0.05)。结论:MTHFR基因C677T位点和eNOS基因G894T位点变异增加了糖尿病患者发生肾病的危险性,可能是糖尿病肾病的遗传易感基因。
Objective: To investigate the relationship between the C677T gene of methylenetetrahydrofolate reductase (MTHFR) gene and the G894T gene of endothelial nitric oxide synthase (eNOS) gene and diabetic nephropathy. Methods: PCR-RFLP was used to detect the expression of MTHFR, eNOS in 60 patients with type 2 diabetes mellitus (DN + group), 60 patients with type 2 diabetes without diabetic nephropathy (DN- group) and 60 healthy controls (NC group) Genotypes, allele frequencies and genotype frequencies were compared between groups. Results: (1) The frequency of TT genotype and the frequency of T allele in DN + group of MTHFR C677T group were significantly higher than those in DN group and NC group (P <0.05). (2) The T allele of DN + group of eNOS gene G894T (3) The TT genotype of C677T site of MTHFR gene and TG genotype of G894T site of eNOS gene had synergistic effect in type 2 diabetic nephropathy (P <0.05) <0.05). CONCLUSION: Mutation of MTHFR gene C677T site and eNOS gene G894T site may increase the risk of developing nephropathy in diabetic patients, which may be a genetic predisposition to diabetic nephropathy.