MTHFR基因C667T多态性与动脉血栓性脑梗死的关联性研究  

Study of association between MTHFR gene C667T polymorphism and atherothrombotic infarction

作　　者：陈钊 何深文 李旺英 

机构地区：[1]广东省东莞市常平医院神经内科,广东东莞523573 [2]广东省佛山市顺德区均安医院内二科,广东佛山528329 [3]广东省佛山市顺德区均安医院超声科,广东佛山528329

出　　处：《中国现代医生》2013年第17期32-34,共3页China Modern Doctor

基　　金：广东省佛山市卫生局医学科研课题(2011498)

摘　　要：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(Hcy)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TT携带者血浆Hcy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:χ2=1.313,P=0.519;等位基因:χ2=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。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.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 动脉血栓性脑梗死 

分 类 号：R743.33[医药卫生—神经病学与精神病学]