Hcy及MTHFR C677T基因多态性与河南汉族脑梗死的关系  

Relationship between the plasma homocysteine level,the polymorphisms of MTHFR C677T genes and cerebral infarction in Henan Han population

作　　者：李艾帆[1,2] 张华[3] 范玉佳[3] 贺颖[3] 赵幸娟[2] 曹心慧[2] 崔传举[2] 郑红[3] 许予明[1] 

机构地区：[1]郑州大学第一附属医院神经内科,河南郑州450052 [2]河南大学附属郑州市第一人民医院神经内科,河南郑州450000 [3]郑州大学基础医学院细胞生物学与医学遗传学教研室,河南郑州450052

出　　处：《中风与神经疾病杂志》2014年第6期510-513,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河南省科技发展基金资助(132102310388);郑州市科技发展金资助(20120842)

摘　　要：目的探讨同型半胱氨酸(Hcy)水平及亚甲基四氢叶酸还原酶(MTHFR)基因多态性与河南汉族人群脑梗死的相关性。方法运用循环酶法和PCR-限制性片段长度多态性分析检测河南汉族300例脑梗死患者及261例健康对照者Hcy水平及MTHFR C677T基因型,并进行测序验证。结果病例组和对照组平均空腹血浆Hcy水平差异有显著性(P<0.01);MTHFR C677T在患者组TT型、CT型频率及T等位基因频率均显著高于对照组,差异有统计学意义(P<0.01);两组不同基因型相应的Hcy浓度差异有统计学意义(P<0.01),TT型与CT型显著高于CC型(P<0.01)。Logistic回归分析结果显示:在调整传统危险因素后,MTHFR C677T基因突变及升高的Hcy水平和脑梗死发病相关。结论血浆Hcy浓度升高是河南汉族脑梗死的独立危险因素;MTHFR C677T基因突变可影响Hcy水平,可能是脑梗死发生的重要机制之一。MTHFR基因突变可能是河南汉族人群中脑梗死发病中的一个重要危险因素。Objective To explore the relationship between the plasma homocysteine （Hcy） level and the polymorphisms of Methylene tetraphydrofolate ruductase （MTHFR） genes with cerebral infarction in Henan Han population. Methods Plasma Hcy concentrations （with circle enzyme methord） and MTHFRC677T genotypes were detected （with PCR-RFLP） in 300 patients with cerebral infarction and 261 controls. Results There was significantly difference in plasma Hcy concentrations between the two groups （P 〈 0.01 ）. The frequence of homozygous and heterozygous MTHFR mutation and the frequency of T aleles in stroke patients were higher than in controls ,with significant difference（ P 〈 0.01 ）. Among the patients the plasma Hcy levels in those with CT and TT genotypes were significantly higher than those in patients of CC genotypes （P 〈0.01 ）. Multiple stepwise logistic regression analysis showed that elevated tHcy levels was significantly associated with cerebral infarction after adjusted the eonventionl risk factors. Conclusion Hyperhomocysteinemia is an independent risk factor of cerebral infarction in Henan Han population, Mutations of MTHFR C677T could affect plasma Hcy levels which might be one of the important causes of development of cerebral infarction, MTHFR C677T gene may be an important risk factor for ischemic cerebral infarction in the Henan Han populations.

关 键 词：脑梗死 同型半胱氨酸 亚甲基四氢叶酸还原酶 基因多态性 

分 类 号：R743.3[医药卫生—神经病学与精神病学]