亚甲基四氢叶酸还原酶基因多态性与2型糖尿病微血管病变易感性的研究

目的 探讨亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR)基因多态性与中国北方汉族2型糖尿病患者微血管并发症（DMAP）易感性的关系。方法 应用聚合酶链反应－限制性片段长度多态性（PCR－RFLP）的方法检测291名中国北方汉族[2型糖尿病患者229例，其中无微血管并发症（NCD）组102例，糖尿病视网膜病变（DR）组60例，糖尿病肾病（DN）组和67例；健康人对照（CON）组62例]MTHFR基因的多态性，比较各组间MTHFR等位基因和基因型的频率。结果 基因型BB在DN及DR组（34．3％和31．7％）高于NCD组和CON组（13．7％和12．9％）；DN及DR组的等位基因B频率（54．4％和59．9％），也高于NCD组和CON组（41．2％和35．5％），差异均有显著性意义。基因型BB和等位基因B在NCD和CON组之间的分布无统计学差异。结论 MTHFR基因C677T变异与中国北方汉族2型DM患者DMAP的发生有关。等位基因B可能是DMAP的易感基因。

Study on the relationship between N5,10 -methylenetetrahydrofolate reductase gene polymorphism and the susceptibility to microangiopathy in type 2 diabetes mellitus

Objective To study the relationship between the polymorphism of N 5,10 methy lenetetrahydrofolate reductase (MTHFR) gene and the susceptibility to diabetic microangiopathy (DMAP) in type 2 diabetes mellitus (DM) of Han nationality in north China. Methods By PCR RFLP, MTHFR C677T mutation was detected in 229 type 2 diabetic patients, including 102 non complication diabetics (NCD group), 67 diabetic nephropathy (DN group) and 60 diabetic retinopathy (DR group), and 62 healthy persons as control (CON group). Results The frequency of homozygous BB genotype and allele B in DN and DR were significantly higher than that in NCD and CON, but NCD and COD showed similar frequency of BB genotype and allele B. Conclusion In type 2 DM of Han nationality in north China, there is a strong correlation between the polymorphism of MTHFR gene and DMAP, and the allele B may be a susceptibile gene of DMAP.