脑动脉狭窄与同型半胱氨酸和MTHFR基因多态性的关系  

Relationship between homocysteine,polymorphisms of MTHFR gene and stenosis of cerebral artery

作　　者：李娜[1] 林小慧[1] 董玉娟[1] 张进贵[2] 刘俊艳[1] 王建茹[1] 

机构地区：[1]河北医科大学第三医院神经内科,河北石家庄050051 [2]河北医科大学第三医院实验中心,河北石家庄050051

出　　处：《中风与神经疾病杂志》2005年第3期209-212,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河北省科技厅攻关计划项目基金资助(032761100D-4)

摘　　要：目的探讨血浆同型半胱氨酸(Hcy)和5,10-亚甲基四氢叶酸还原酶(MTHFR)两个常见突变位点与脑动脉狭窄的关系。方法选择年龄、性别匹配的病例组80例,对照组55例,采用荧光偏振免疫法(FPIA)测定血浆Hcy水平,聚合酶链反应-限制片段长度多态性(PCR-RFLP)技术进行基因分型。结果病例组和对照组血浆Hcy水平分别为17.18μmol/L和12.54μmol/L,差别显著(P<0.05)。血浆Hcy水平与血管狭窄数目无关。两组MTHFR677TT及T等位基因频率差异均显著(P<0.05),1298AC/CC及C等位基因频率、677CT/1298AC频率均无显著差异。各组内677TT Hcy水平显著高于677CT或677CC型,A1298C突变对Hcy水平无明显影响。结论677TT突变可引起血浆Hcy水平显著升高,与脑动脉狭窄密切相关。A1298C突变对血浆Hcy水平及脑动脉狭窄无显著影响。Objective To investigate the relationship between plasma homocysteine (Hcy),polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and stenosis of cerebral artery. Methods In a case-control study,plasma Hcy,polymorphisms of MTHFR gene in 80 cases and 55 sex-age matched controls were measured by FPIA and PCR-RFLP respectively. Results Plasma Hcy was signifigantly higher in cases(17.18μmol/L) than controls(12.54μmol/L,P=0.005). The crude OR and after adjustment for age,sex,smoking,hypertension,hyperpilidemia and diabetes was 3.87(95%CI,1.76～8.51) and 2.08 (95%CI,1.10～7.15),respectively. There was no statistical significance between plasma Hcy and the branches of stenosis of cerebral artery. The frequencies of TT genotype and T allele in cases were significantly higher than controls (42.5% vs 21.8%,P=0.013;64.4% vs (39.1%),P=0.000). But no difference in 1298AC/CC genotype,C allele and 677CT/1298AC genotype between the two groups. Plasma Hcy was significantly higher in TT genotype than in CT or CC genotype. But A1298C mutation did not affect plasma Hcy levels significantly,and no additional effect of A1298C on Hcy levels in persons with C677T mutation was observed. Conclusion 677TT genotype causes hyperhomocysteinemia. There is a significant association between Hyperhomocysteinemia. C677T mutation has significant influence on stenosis of cerebral artery. No relationship is found between A1298C mutation alone or combined heterozygosity for both MTHFR mutations and plasma Hcy levels and stenosis of cerebral artery.

关 键 词：同型半胱氨酸 亚甲基四氢叶酸还原酶 基因 多态性 动脉粥样硬化 脑动脉狭窄 

分 类 号：R743[医药卫生—神经病学与精神病学]