rs12122341多态性与中国汉族人缺血性卒中发病风险无关  

rs12122341 polymorphism is not associated with risk of ischemic stroke in Chinese Han population

作　　者：李芳[1] 史长河[1] 唐秘博 李硕[1] 李少华[1] 张槊 王志杰[1] 宋波[1] 许予明[1] 

机构地区：[1]郑州大学第一附属医院神经内科,450000

出　　处：《国际脑血管病杂志》2017年第8期724-728,共5页International Journal of Cerebrovascular Diseases

基　　金：国家自然科学基金（U1404311,81771290,81530037,81471158）

摘　　要：目的探讨rs12122341多态性与中国汉族人群缺血性卒中及其主要亚型的相关性。方法纳入来自中国汉族人群的缺血性卒中患者和健康对照者，采用改良多重高温连接酶法检测rs12122341基因型。结果共纳入776例缺血性卒中患者（大动脉粥样硬化性卒中415例，小动脉闭塞性卒中361例）和776例健康对照者。基因分型显示，在所有研究对象中仅检测到rs12122341 CC和CG 2种基因型，未检测到GG基因型。病例组等位基因和基因型频率与对照组均无显著性差异。多变量logistic回归分析显示，rs12122341多态性与缺血性卒中[优势比（odds ratio, OR）1.482，95%可信区间（confidence interval, CI）0.641～3.421；P＝0.447]、大动脉粥样硬化性卒中（OR 1.972，95% CI 0.655～6.034；P＝0.227）和小动脉闭塞性卒中（OR 1.632，95%CI 0.437～6.262；P＝1.000）均无显著相关性。结论在中国汉族人群中，rs12122341多态性与缺血性卒中及其主要亚型均无显著相关性。ObjectiveTo investigate correlation between the rs12122341 polymorphism and ischemic stroke and its major subtypes in Chinese Han population.MethodsThe patients with ischemic stroke and matched healthy controls in Chinese Han population were enrolled. The rs12122341 genotype was detected by the improved multiple ligase detection reaction （iMLDR）.ResultsA total of 776 patients with ischemic stroke （415 large artery atherosclerotic stroke and 361 small artery occlusive stroke） and 776 healthy controls were enrolled. Genotyping showed that only rs12122341 CC and CG genotypes were detected in all subjects, and no GG genotype was detected. There was no significant difference in frequencies of allele and genotype between the patient group and the control group. Multivariate logistic regression analysis showed that there were no significant correlations between rs12122341 polymorphism and ischemic stroke （odds ratio [OR] 1.482, 95% confidence interval [CI] 0.641-3.421; P=0.447）, large artery atherosclerotic stroke （OR 1.972, 95% CI 0.655-6.034; P=0.227）, and small arterial occlusive stroke （OR 1.632, 95% CI 0.437-6.262; P=1.000）.ConclusionsThere is no significant correlation between the rs12122341 polymorphism and risk of ischemic stroke and its major subtypes in Chinese Han population.

关 键 词：卒中 脑缺血 多态现象 遗传学 疾病遗传易感性 危险因素 

分 类 号：R743.3[医药卫生—神经病学与精神病学]