基因C677T多态性在2型糖尿病合并大血管病变中的意义

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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。

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	王金辉1 王飞飞1 李为民2▲

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

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, P ＜ 0.01). Conclusion The combination of T2DM with macroangiopathy may be related with the mutation of the MTHFR gene C677T.

Key words： Diabetic mellitus Macrovascular complications Methylenetetrahydrofolate reductase C677T mutation Genotype Homocysteine

基金资助:黑龙江省哈尔滨市第一医院人才引进基金项目（2013SYYRCYJ06-2）。

通讯作者: ▲通讯作者

作者简介: 王金辉（1978.12-），女，博士，哈尔滨市第一医院检验科副主任；研究方向：肿瘤检验指标在临床上的应用。

引用本文:

王金辉1 王飞飞1 李为民2▲. 基因C677T多态性在2型糖尿病合并大血管病变中的意义[J]. 中国医药导报, 2018, 15(14): 102-106.
WANG Jinhui1 WANG Feifei1 LI Weimin2▲. The significance of C677T mutation in type 2 diabetes mellitus combined with macrovascular complications. 中国医药导报, 2018, 15(14): 102-106.

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http://www.yiyaodaobao.com.cn/CN/ 或 http://www.yiyaodaobao.com.cn/CN/Y2018/V15/I14/102

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