亚甲基四氢叶酸还原酶基因多态性与2型糖尿病肾病的关系

目的探讨亚甲基四氢叶酸还原酶（methylenete—trahydrofolate reductase，MTHFR）基因多态性与2型糖尿病肾病（diabetic nephropathy，DN）的关系，为筛选DN高危人群及DN的早期干预治疗提供理论依据。方法采用以医院为基础的成组病例对照研究方法，于2009年6月至2010年1月对72例并发DN的2型糖尿病患者（病例组）和127例未并发DN的2型糖尿病患者（对照组）进行间卷调查、体格检查和实验室检查。应用聚合酶链反应-限制性片断长度多态性（PCR—RFLP）技术进行MTHFR基因C677T多态性分析。结果病例组MTHFR基因TT基因型和T等位基因频率分别为30．6％和54．9％，均高于对照组（17．3％和42．1％），差异有统计学意义（P〈0．05o单因素logistic回归分析结果显示，MTHFR基因C677T多态性与DN之间存在统计学关联，其OR（95％CI）为1．673（1．100～2．545）；携带MTHFRT等位基因的2型糖尿病患者发生DN的危险性是C等位基因携带者的1．670倍（95％CI：1．106～2．521），经过高血压、糖尿病病程和糖尿病家族史调整后，二者间的统计学关联仍然存在。结论MTHFR基因C677T多态性与DN相关，T等位基因可增加2型糖尿病患者合并肾病的危险。

Relationship between polymorphisms of methylenete-trahydrofolate reductase gene and type 2 diabetic nephropathy

Objective To study the relationship between polymorphisms of methylenete- trahydrofolate reductase （MTHFR） gene and type 2 diabetic nephropathy （DN）. Methods A hospital-based case-control study was conducted from June 2009 to January 2010. Seventy-two cases with type 2 diabetic nephropathy and 127 controls of type 2 diabetic patients without nephropathy were investigated with questionnaires, physical examination and laboratory test. The polymorphisms of MTHFR gene was detected by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. Results The frequencies of3T genotype and T allele of MTHFR gene in case group were 30.6% and 54.9%, which were significantly higher than those （ 17.3% and 42.1% ） in control group （P〈0.05）. Univariate logistic regression analysis showed that C677T polymorphism of MTHFR gene was correlated with DN （OR=1.673, 95%CI： 1.100-2.545 ）. The risk of DN in type 2 diabetic patients with T allele of MTHFR gene increased as compared to type 2 diabetic patients with C allele of MTHFR gene （OR=1.670, 95%CI： 1.106-2.521 ）. After adjusting the history of hypertension, diabetic duration and family history of diabetes, the results still showed that MTHFR gene polymorphism was associated statistically with the risk of DN. Conclusion There is a relationship between C667T polymorphism of MTHFR gene and DN. Allele T of MTHFR gene is associated with higher risk of DN.