王金辉 王飞飞 李为民

    [摘要] 目的 探讨MTHFR基因C677T突变与2型糖尿病(T2DM)合并大血管病变的关系。 方法 纳入2015年10月～2017年1月哈尔滨市第一医院380例T2DM患者(其中218例单纯T2DM患者和162例T2DM大血管并发症患者)和306例健康对照者。分离血液基因组DNA，采用基于聚合酶链反应的限制性片段长度多态性(PCR-RFLP)方法对MTHFR基因C677T突变进行基因分型。 结果 与单纯T2DM患者相比，T2DM合并大血管并发症患者MTHFR基因C677T突变的TT基因型和T等位基因型频率显著增高，差异有高度统计学意义(P < 0.01)。基因型TT患者同型半胱氨酸浓度明显高于基因型CT和CC的患者(P < 0.05、P < 0.01)。 结论 T2DM合并大血管病变可能与MTHFR基因C677T突变有一定相关性。

    [关键词] 糖尿病；大血管病变；亚甲基四氢叶酸还原酶；C677T突变；基因型；同型半胱氨酸

    [中图分类号] R587.1 [文献标识码] A [文章编号] 1673-7210(2018)05(b)-0102-05

    The significance of C677T mutation in type 2 diabetes mellitus combined with macrovascular complications

    WANG Jinhui1 WANG Feifei1 LI Weimin2

    1.Department of Laboratory Medicine， the First Hospital of Harbin， Heilongjiang Province， Harbin 150000， China； 2.Department of Cardiology， the First Hospital of Harbin， Heilongjiang Province， Harbin 150000， China

    [Abstract] Objective To investigate the possible association between MTHFR gene C677T mutation and type 2 diabetes mellitus (T2DM) combined with macrovascular complications. Methods Clinical data of 380 T2DM patients (218 simple T2DM and 162 T2DM patients with macrovascular complications) and 306 healthy controls were selected from the First Hospital of Harbin from October 2015 to January 2017. Blood genomic DNA was separated and the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) assay was used for genotyping of the MTHFR gene C677T mutation. Results The frequencies of TT genotypes and T alleles of the C677T mutation in MTHFR gene in T2DM patients with macrovascular complications were statistically significantly higher than those of simple T2DM patients (P < 0.01). The homocysteine level in genotypic TT patients was significantly higher than that of genotype CT and CC patients (P < 0.05 ......