甲基四氢叶酸还原酶基因多态性与血浆同型半胱氨酸水平及冠心病的关系  

Association of Methylenetetrahydrofolate Reductase Gene Polymorphism, Level of Homocysteine and Coronary Heart Disease

作　　者：毛用敏[1] 赵福梅[1] 秦勤[1] 陈倩[1] 程津新[1] 肖向茜 崔让庄[1] 赵炳让[1] 

机构地区：[1]天津市心血管病研究所,300051

出　　处：《天津医药》2002年第8期451-453,共3页Tianjin Medical Journal

摘　　要：目的:探讨甲基四氢叶酸还原酶基因多态性与血浆同型半胱氨酸水平及冠心病的关系。方法:对298例经冠脉造影证实为冠心病的患者及136例无冠心病者的对照组进行研究,检测血浆同型半胱氨酸水平,多项血脂含量及甲基四氢叶酸还原酶基因多态性。结果:基因型与冠心病严重程度不相关,对照组及有3支血管病变的冠心病病人A型及V型等位基因频率无显著性差异。VV型纯合子的血浆同型半胱氨酸含量明显高于AA型纯合子（P<0.005）。高同型半胱氨酸血症者V等位基因频率明显高于低同型半胱氨酸血症者（P<0.01）。血脂含量与同型半胱氨酸基因型无关。结论:血浆同型半胱氨酸含量与甲基四氢叶酸还原酶基因变异相关,其VV纯合子血浆同型半胱氨酸水平最高。此基因变异与冠心病严重程度无关。Objective:To investigate the association of methylenetetrahydrofolate reductase gene polymorphism,level of homocysteine, and coronary heart disease. Methods: Two hundred and ninety-eight patients and 136 controls were studied. All of them were identified by angiography. MTHFR gene polymorphism, levels of lipids, and Hcy in plasma were analyzed. Results: There was no significant difference between the gene type and the severity of CHD. No significant difference was found in A, V allele frequency between controls and patients with 3 vessels sterosis. Levels of homocysteine for V/V gene type were significant higher than that for A/A genotype (P<0. 05). V allele frequency for the cases with high plasma levels of homocysteine was significant higher than that with low plasma levels of homocysteine by 0. 64/ 0. 50(P<T 0. 01) . No relationship was found between the levels of plasma lipid and homocysteine genotype. Conclusion: The plasma level of homocysteine is associated with the mutation of MTHFR. V/V genotype (mutation type) has a highest level of homocysteine. There is no relationship between mutant genotype and CHD.

关 键 词：冠脉造影 PCR 发病机理 冠心病 甲基四氢叶酸还原酶 基因多态性 血浆同型半胱氨酸 

分 类 号：R541.4[医药卫生—心血管疾病]