目的：探讨血清同型半胱氨酸（Hcy）水平与亚甲基四氢叶酸还原酶（MTHFR）基因多态性对T2DM患者发生脑梗死的影响。方法对81例T2DM合并脑梗死（T2DM＋脑梗死）组及325例单纯T2DM （T2DM ）组血清 Hcy、叶酸水平及M T HFR基因多态性等项目行统计学分析。结果 T2DM＋脑梗死组与 T2DM 组 MTHFR 基因第677位 T 等位基因率及 TT 突变基因率分别为64.15％、60.15％和42.5％、34.5％（P＞0.05）。TT型Hcy水平为（14.4±7.86） mmol／L ，而CC型血清Hcy水平为（10.58±3.37） mmol／L ，两基因型比较，差异有统计学意义（P＜0.01）。结论 MTHFR基因多态性与T2DM患者发生脑梗死无相关性；M T HFR基因C677T突变基因型与高 Hcy血症相关。%Objective To investigate the relationship of plasma homocysteine and the polymorphism of MTHFR gene with ischemic stroke in type 2 diabetes. Methods Serum Hcy ,folic acid and the polymorphism of MTHFR gene were compared among 81 T2DM patients with brain infarction (T2DM+BI) and 325 T2DM patients without brain infarction (T2DM ). Results All the genotypes of T2DM group and T2DM+BI group followed the hardy‐weinberg law. There was no significant difference in the frequency of mutant alleles (T) in site 677 of MTHFR gene and in frequency of TT genotype between the groups of T2DM and T2DM + BI (64.15% vs 60.15% and 42.5% vs 34.5% ,P > 0.05 ). The concentration of Hcy was significantly higher in patients with TT genotype than with CC genotype (14.4 ± 7.86) vs (10.58 ± 3.37)mmol/L(P<0.01). Conclusion There is no correlation between polymorphism of MTHFR gene and stroke in T2DM patients. The mutation of MTHFR C677T is associated with hyperhomocysteinemia.
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