青年缺血性脑卒中与MTHFRC677T、CBS844ins68基因多态性的关系

doi:卫生部科技专项基金资助课题（卫科教规划发

青年缺血性脑卒中与MTHFRC677T、CBS844ins68基因多态性的关系

方乐¹，王田蔚²，邵延坤¹，杨宏¹

1.吉林大学中日联谊医院神经内科，吉林长春 130033；2.吉林大学中日联谊医院放射线科，吉林长春 130033

收稿日期:2006-05-17 修回日期:1900-01-01 出版日期:2007-03-28 发布日期:2007-03-28
通讯作者: 王田蔚

Association between MTHFRC677T, CBS844ins68 polymorphism and young ischemic stroke

FANG Le¹, WANG Tian-wei²，SHAO Yan-kun¹, YANG Hong¹

1. Department of Neurology, China-Japan Union Hospital, Jilin University, Changchun 130033, China;2. Department of Radiology, China-Japan Union Hospital, Jilin University, Changchun 130033, China

Received:2006-05-17 Revised:1900-01-01 Online:2007-03-28 Published:2007-03-28
Contact: WANG Tian-wei

摘要/Abstract

摘要： 目的：研究人MTHFR、CBS基因多态性与青年缺血性脑卒中的遗传关联性。方法：采用限制性内切酶片段长度多态性方法（PCR-RFLP），对98例脑卒中患者（病例组）和116例健康人（对照组）MTHFR C677T及CBS844ins68多态性位点进行检测。结果：病例组MTHFR基因T、C等位基因频率分别为54.09%和45.91%，对照组为37.93%和62.07%，两组比较差异有显著性（P<0.05）。TT型携带者与CC型携带者罹患脑卒中比较相对危险度为2.83，T等位基因携带者与C等位基因携带者罹患脑卒中比较相对危险度为1.93。CBS844ins68多态性位点在病例组与对照组之间D/I 2种等位基因及基因型分布频率差异无显著性(P>0.05)。Logistic回归分析显示MTHFRC677T是青年缺血性脑卒中的一个独立危险因子，且吸烟及高血压也与之有关联(P<0.01)。结论：汉族人群MTHFR C677T位点多态性与青年缺血性脑卒中有相关性，MTHFR基因可能是青年缺血性脑卒中的一个易感基因。CBS844ins68多态性位点与青年缺血性脑卒中无关联。

关键词: 胱硫醚β合成酶, 脑血管意外, 多态现象(遗传学)

Abstract: Objective To investigate the genetic association of MTHFRC677T between CBS844ins68 polymorphism and young ischemic stroke. Methods The polymorphism of MTHFRC677T and CBS844ins68 in 98 stroke patients and 116 control subjects were examined and analyzed by using PCR-RFLP. Results The frequencies of two alleles were as follows: T allele 54.09%, C allele 45.91% in patients and T 37.93%, C 62.07% in controls （χ²=11.18, P<0.05）. Odds radio of T to C was 1.93（95%CI 1.31-2.84）. Logistic regression analysis showed that incidence of young ischemic stroke in people with MTHFR677C→T was 1.907 times of that in people without the mutation. The significant association wasn’ t found between young ischemic stroke and 844ins68 mutation in CBS gene. MTHFR C677T variation had significant correlation with young ischemic stroke. Conclusion C677T mutation site in MTHFR gene has a significant relation with young ischemic stroke and MTHFR gene is a predisposing gene of young ischemic stroke by Logistic regression analysis. T allele carrier has a higher risk to stroke. 844ins68 mutation site in CBS gene is failed to find any obvious relation with young ischemic stroke.

Key words: 10-methylenetetrahydrofolate reductase, cystathionine beta-synthase, cerebrovascular acident, polymorphism(genetics)

中图分类号:

R743.3

方乐，王田蔚，邵延坤，杨宏. 青年缺血性脑卒中与MTHFRC677T、CBS844ins68基因多态性的关系[J]. J4, 2007, 33(2): 310-313.

FANG Le, WANG Tian-wei，SHAO Yan-kun, YANG Hong. Association between MTHFRC677T, CBS844ins68 polymorphism and young ischemic stroke[J]. J4, 2007, 33(2): 310-313.

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