亚甲基四氢叶酸还原酶基因多态性对同型半胱氨酸水平及脑梗死的影响

Effect of 5,10-methylenetetrahydrofolate reductase(MTHFR) polymorphisms on serum homocysteine and brain infarction

目的 探讨 5 ,10 亚甲基四氢叶酸还原酶 (MTHFR)基因多态性对同型半胱氨酸 (homocysteine,Hcy)水平的影响及与脑梗死发病的关系。方法 选取年龄、性别匹配的脑梗死患者 97例 (脑梗死组 ) ,对照组 94例 ,测定空腹血浆Hcy浓度 ,采用限制性内切片段多态性分析法检测MTHFR基因两个位点的基因表型。结果 Hcy水平在脑梗死组与对照组的分布有显著性差异 [( 2 7.4 2± 34.91) μmoL Lvs( 13.82± 12 .18) μmoL L ,P <0 .0 0 1]。C6 77T位点突变对Hcy有影响 ,其中以TT表型者Hcy水平最高 ,A12 98C位点突变对Hcy无影响 ;logistic回归分析表明 ,C6 77T突变者患脑梗死的OR =1.87。结论 MTHFR基因C6 77T位点多态性与脑梗死的发生相关 ,显著影响Hcy水平 。

Objective To elucidate the effect of MTHFR polymorphisms on serum homocysteine and brain infarction.Methods Whole blood samples from 97 patients and 94 controls matched for age and sex were obtained. Serum homocysteine was measured by fluorescence polarization immunoasssay.The C677T and A1298C genotypes were determined by PCR RFLP protocol.Results In cases and controls serum homocysteine levels were 27.42±34.91 μmol/L and 13.82±12.18 μmol/L,respectively (P<0.001).C677T mutation not only had relationship to the brain infarction,but also affected homocysteine level,especially the 677TT homozygote.A1298C mutation had no these effect.Conclusion C677T polymorphism affected serum homocysteine significantly and was associated with brain infaretion,so it maybe a genetic risk factor for brain infarction.