补体C5基因多态性与动脉粥样斑块及大动脉粥样硬化型缺血性卒中的相关性研究

摘要

目的 补体系统(Complement System,CS)在缺血性卒中(Ischemic Stroke,IS)的发生发展中起的作用越来越受到大家的重视.补体5 (Complement 5,C5)是补体系统的重要成分之一.本研究为探讨C5的一个单核苷酸多态性(Single-Nucleotide Polymorphism,SNP) (rs17611)在中国汉族人群中与IS的发病、严重程度之间的相关性.方法 本研究共人组824例研究对象,其中494例为IS患者,330例为健康对照,收集了多项临床资料,并利用聚合酶链反应-连接酶检测反应分析技术检测了C5 rs17611的基因多态性.IS患者组根据TOAST分型进行亚组分析,使用美国国立卫生研究院神经功能缺损评分(the National Institutes of Health Stroke Severity Scale,NIHSS)进行疾病严重性判定.结果 本研究发现C5 rs17611的基因多态性与大动脉粥样硬化型(large artery atherosclerosis,LAA) IS的发病有相关性,携带G等位基因使LAA型IS的发病风险升高了1.72倍(OR=1.73;95％ CI=1.17～2.54;P＜0.05).然而未发现基因型与疾病的严重程度有相关.结论 携带C5 rs17611 G等位基因使LAA型IS的发病风险升高.C5 rs17611基因的突变与动脉粥样硬化脑梗死的发病有可能相关.%Objective To explore the correlation between single-nucleotide polymorphism (SNP) of complement 5 (C5) gene and the occurrence and severity of ischemic stroke (IS) in Chinese Han population.Methods 824 cases were enrolled in the study,including 494 cases with IS and 330 norm;clinical data were collected and polymerase china reactionligation detection reaction (PCR-LDR) was applied in detecting the polymorphism of C5 rs17611;IS was classified into subtypes according to TOAST (Trial of Org 10 172 in acute stroke treatment);the National Institutes of Health Stroke Severity Scale (NIHSS) was applied in the measurement of disease severity.Results The polymorphism of C5 rs17611 was correlated to the occurrence of LAA (large artery atherosclerosis)-subtype IS,the presence of C5 polymorphism G allele increased the risk of LAA-subtype IS by 1.72 times (OR =1.72,95 ％ CI =1.17-2.54,P ＜ 0.05);no correlation was found between genotype and the severity of the disease.Conclusions C5 rs17611 G allele increases the risk of LAA-subtype IS;SNP of C5 gene may be in certain correlation to the pathogenesis of atherosclerotic cerebral infarction.