内皮源性一氧化氮合酶基因多态性与缺血性脑卒中相关性研究  

Association study between a polymorphism of endothelial nitric oxide synthase gene and ischemic stroke

作　　者：高鹏[1] 吴江[1] 杜丹华[1] 赵节绪[1] 胡林森[1] 林文华[1] 

机构地区：[1]吉林大学第一医院神经内科,吉林长春130021

出　　处：《中风与神经疾病杂志》2007年第6期644-646,共3页Journal of Apoplexy and Nervous Diseases

基　　金：吉林省科技厅资助项目(No.20060413-1);长春市科技局资助项目(06GG45)

摘　　要：目的通过病例对照研究,探讨内皮源性一氧化氮合酶(eNOS)基因多态性与缺血性脑卒中的关系。方法采用聚合酶链反应(PCR)和限制性片断长度多态性(RFLP)技术,对452例缺血性脑卒中患者和153例健康对照人群的eNOS基因rs3918181位点进行基因多态性检测。结果大动脉粥样硬化型脑梗死组的基因型与等位基因频率与正常对照组比较P>0.05,无统计学意义。腔隙性脑梗死组eNOS基因AA+AG基因型频率明显高于对照组,相对于GG基因型,暴露于AA+AG基因型人群的OR值为1.644(95%CI 1.124～2.405)。腔隙性脑梗死A等位基因频率也显著高于对照组,相对于G等位基因,A等位基因OR值为1.419(95%CI 1.061～1.898)。结论内皮源性一氧化氮合酶(e-NOS)基因rs3918181位点多态性与腔隙性脑梗死相关;A等位基因可能增加中国汉族人罹患腔隙性脑梗死的风险。Objective To explore the relationship of endothelial nitric oxide synthase （eNOS） gene polymorphism and ischemic stroke through case-control study. Methods 452 patients with ischcmic stroke were enrolled into this study, 153 healthy people were as controls. SNP rs3918181 of the gene was used as a genetic marker. Rs3918181 polymorphism of eNOS gene was monitored by polymerize chain reaction fragment length polymorphism（PCR-RELP）. Results The x^2test showed no association between healthy controls and patients with cerebral infarction due to large vessel atherosclerosis. In patientes with lacunar infarction,the frequency of allele A of rs3918181 was significantly higher than that in controls （x^2=5. 560,P=0. 018,OR=1. 419,95%CI1. 061～ 1. 898）. And the frequency of AA and AG genotypes of rs3918181 was significantly higher in patients than in controis （x62=6.561,P=0.01,OR=1.644,95～CI 1. 12442.405）.Conclusions Rs3918181 polymorphism in eNOS gene is associated with lacunar infarction in Chinese Han population. An allele may increase the susceptibility to lacunar infarction in Chinesc Han population.

关 键 词：内皮源性一氧化氮合酶 脑卒中 基因多态性 

分 类 号：R743.32[医药卫生—神经病学与精神病学]