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[目的]探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病肾病的关系。[方法]采用以医院为基础的配对病例对照研究方法,以年龄和性别为配比条件,对139对研究对象进行研究。通过问卷调查,体格检查获得研究对象的有关资料。应用聚合酶链式反应-限制性片断长度多态性(PCR-RFLP)技术、琼脂糖凝胶电泳方法进行MTHFR基因多态性分析。[结果]DN组的基因型分布、等位基因的频率与DM组间均具有统计学差异,携带T等位基因的DM患者发生DN的危险性高于无该等位基因的患者,OR值为2.610(95%CI:1.823～3.737)。条件Logistic回归分析发现,CT型和TT型DM患者发生DN的危险分别是CC型患者的2.362和2.568倍。[结论]MTHFR基因C677T多态性与DN相关,MTHFR基因677C-T突变可能是T2DM患者发生DN的一个遗传易感因素,突变的T等位基因可能为DN的易感基因。
[Objective] To investigate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and type 2 diabetic nephropathy. [Methods] A hospital-based paired case-control study was conducted to investigate 139 pairs of study subjects using age and gender as matching conditions. Through questionnaires, physical examination to obtain the relevant information of the research object. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis were used to analyze the MTHFR gene polymorphism. [Results] The distribution of genotypes and frequency of alleles in DM group were statistically different from those in DM group. The risk of DN in DM patients with T allele was higher than that in patients without this allele, OR Was 2.610 (95% CI: 1.823 ~ 3.737). Conditional Logistic regression analysis found that the risk of DN in CT and TT DM patients were 2.362 and 2.568 times that of CC patients respectively. [Conclusion] The C677T polymorphism of MTHFR gene is associated with DN. The 677C-T mutation of MTHFR gene may be a genetic predisposition to DN in T2DM patients. The mutant T allele may be a DN susceptible gene.