一氧化氮合酶基因多态性与吉林汉族人群脑血栓形成的关系研究

目的研究内皮型一氧化氮合酶基因多态性性与吉林汉族人群脑血栓形成的关系。方法收集120例患有脑血栓形成的吉林汉族患者和102例年龄、性别相匹配的健康对照者，用聚合酶链反应限制性片段长度多态性（PCR-RFLP）技术检测其基因型，用以研究一氧化氮合酶G894T基因变异在两组中的差异。结果eNOS的基因多态性在脑血栓形成组和对照组中的差异有显著性，经调整后的OR值为2．16（95％CI：1.12—4．16，P〈0．05）。T等位基因频率在两组中也存在着显著性差异，经调整后的OR值为2．08，（95％CI：1．17—3．71，P〈0．05）。结论eNOS基因G894T多态性与吉林汉族人群脑血栓形成的发病具有相关性，T等位基因可能是脑血栓形成发病的遗传易感基因。

Association study between the polymorphisms of nitric oxide synthase gene and cerbral thrombosis in Han people of Jilin province

Objective To study the relationship between polymorphisms of endothelial constitutive nitric oxide synthase gene and Cerbral Thrombosis in Han people of Jilin province.Methods We investigated the G894T mutations in the eNOS gene in 120 patients with cerebral thrombosis of Jilin province and 102 age-and sex-matched healthy controls.Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP)were used for genotyping.Results There was significant difference in polymorphisms between patients with cerebral thrombosis and controls,the adjusted odds ratio was 2.16(95%CI:1.12-4.16,P<0.05).There was significant difference in frequencies of allele T between Cerbral thrombosis and control groups.The adjusted odds ratio was 2.08(95%CI:1.17-3.71,P<0.05).Conclusion eNOS G894T polymorphism was associated with cerbral thrombosis in Han people of Jilin province,and T allele may be a genetic risk factor of cerbral thrombosis.