基质金属蛋白酶3-1612基因多态性与急性缺血性脑卒中的关系  

Study on relationship between MMP3-1612 polymorphism and acute ischemic stroke

作　　者：李永芳 李艾帆 张玉超 姜晓蕊 崔传举 袁树华 贺颖 郑红 Yong-fang Li;Ai-fan Li;Yu-chao Zhang;Xiao-rui Jiang;Chuan-ju Cui;Shu-hua Yuan;Ying He;Hong Zheng(Department of Neurology,Zhengzhou First People’s Hospital Affiliated to Henan University,Zhengzhou,Henan 450000,China;Eugenic and Genetic Department,Zhengzhou First People’s Hospital Affiliated to Henan University,Zhengzhou,Henan 450000,China;Department of Medical Genetics and Cell Biology,School of Basic Medicine,Zhengzhou University,Zhengzhou,Henan 450001,China)

机构地区：[1]河南大学附属郑州市第一人民医院神经内科,河南郑州450000 [2]河南大学附属郑州市第一人民医院优生遗传室,河南郑州450000 [3]郑州大学基础医学院医学遗传与细胞生物学系,河南郑州450001

出　　处：《中国现代医学杂志》2018年第31期19-24,共6页China Journal of Modern Medicine

基　　金：河南省郑州市普通科技攻关项目(No:20150001)

摘　　要：目的探讨基质金属蛋白酶3(MMP-3)启动子-1612(5A/6A)基因多态性与急性缺血性脑卒中(AIS)的关系,并进一步探讨其作用机制。方法采用SNa Pshot微测序技术,检测300例急性缺血性脑卒中患者和300例健康对照者MMP-3基因-1612(5A/6A)基因型和等位基因频率差异是否存在统计学意义,并且根据TOAST分型将AIS组分为大动脉粥样硬化型(LAA)、小动脉闭塞型(SAO)、心源性栓塞型(CE)、其他明确病因型(SODE)及其他不明原因型(SUE)亚组,探讨各亚组MMP-3基因-1612(5A/6A)基因型和等位基因频率差异是否存在统计学意义。结果 (1)携带MMP-3-1612的5A/5A基因型数目在AIS组较对照组增加(P <0.05)。(2) MMP-3启动子区的5A/5A基因型数目在LAA型脑梗死增加(P <0.05)。多因素Logistic回归分析结果显示:在调整传统危险因素后,MMP-3启动子区的-1612(5A/6A)基因多态性可增加脑梗死的发病风险。结论 AIS组MMP-3启动子区-1612基因多态性与急性缺血性脑卒中相关,5A/5A基因型可能是急性缺血性脑卒中遗传性危险因素,其作用机制可能与动脉粥样硬化相关,但因本实验样本有限,仍需大样本研究证实。Objective To investigate the association between 1612(5A/6A)polymorphism of MMP3 gene and acute ischemic stroke(AIS).Methods SNaP shot minisequencing was used to study whether there was a significant difference in MMP3-1612 genotype and allele frequency between 300 AIS patients and 300 healthy controls.The AIS cases were divided into five subtypes:large-artery atherosclerosis(LAA),small-artery occlusion(SAO),cardioembolism(CE),stroke of other determined etiology(SODE)and stroke of other undetermined etiology(SUE).The differences in MMP3-1612 genotype and allele frequency were studied among the five subtypes.Results For the MMP3 gene-1612(5A/6A)polymorphism,5A/5A genotype was significantly increased in the AIS group as compared to the control group(P<0.05).5A/5A genotype of MMP3 promoter was significantly increased in the LAA subtype of AIS(P<0.05).Multiple stepwise logistic regression analysis showed that the 1612-5A/6A polymorphism of MMP3 gene was significantly associated with AIS after adjustion of the conventional risk factors.Conclusions The 1612 polymorphism of MMP3 gene is associated with acute ischemic stroke,the 5A/5A genotype may be the risk factor of acute ischemic stroke.The mechanism may be related to arteriosclerosis.But large samples will be studied to confirm our conclusion.

关 键 词：基质金属蛋白酶3 基因多态性 脑卒中 

分 类 号：R743.3[医药卫生—神经病学与精神病学]