MTHFR基因C667T多态性与动脉血栓性脑梗死的关联性研究

目的研究亚甲基四氢叶酸还原酶（MTHFR）基因C667T多态位点对血浆同型半胱氨酸（Hey）水平的影响及其与动脉血栓性脑梗死的相关性。方法选取年龄、性别及危险因素匹配的动脉血栓性脑梗死患者和对照组各84例，采用荧光定量法测定血浆Hcy水平，采用PCR—RFLP技术对MTHFR基因C667T位点进行分型。结果病例组和对照组中MTHFR基因C667T位点基因型1Tr携带者血浆Hey水平显著高于基因型CC及CT携带者（病例组：t=2．292，P=0．024；对照组：t=2．098，P=0．039）。两组间基因型和等位基因频率分布差异无统计学意义（基因型：X2=1．313，P=0．519；等位基因：X^2=1．296，P=0．255）。结论MTHFR基因C667T位点等位基因T可能与血浆Hcy水平升高有关．但等位基因T可能不是动脉血栓性脑梗死的主要危险因素。

Study of association between MTHFR gene C667T polymorphism and- atherothrombotic infarction

Objective To investigate the influence of methylenetetrahydrofolate reductase （MTHFR） gene C667T poly- morphism on plasma homocysteine（Hcy） level and the association between C667T polymorphism and atherothrombotic infarction. Methods Eighty-four patients with atherothrombotic infarction and 84 age, sex, and risk factors-matched subjects were recruited. Plasma Hcy levels were determined by fluorescence ration biochemical assay kit. Genotypes were detected by PCR-RFLP. Results In both groups, the plasma Hcy levels for genotype TY were significantly higher than those for genotype CC and CT （patients： t = 2.292, P = 0.024; controls： t = 2.098, P = 0.039）. No significant difference was found in the distribution of genotypes and alleles between patients and controls（genotype：x2=1.313, P = 0.519; allele：x2=1.296, P = 0.255）. Conclusion Allele T of＇MTHFR gene C667T plays a role in elevating plasma Hcy levels, but it may not be a major risk factor for atherothrombotic infarction.