缺血性脑卒中患者与健康人群临床特征及基因多态性比较分析  

Comparative analysis of clinical characteristics and gene polymorphism between patients with ischemic stroke and healthy population

作　　者：李昊文 沈宓[3] 高培毅[3,4] 李子瑞 张文丽[5] 王宇新 王雅杰[5,6] Li Haowen;Shen Mi;Gao Peiyi;Li Zirui;Zhang Wenli;Wang Yuxin;Wang Yajie(China National Clinical Research Center for Neurological Diseases,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;Beijing Key Laboratory of Translational Medicine for Cerebrovascular Diseases,Beijing 100070,China;Neuroradiology Department,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;Beijing Institute of Neurosurgery,Beijing 100070,China;Clinical medical research Laboratory,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;Clinical Laboratory,Beijing Ditan Hospital,Capital Medical University,Beijing 100015,China)

机构地区：[1]首都医科大学附属北京天坛医院国家神经系统疾病临床医学研究中心,100070 [2]脑血管病转化医学北京市重点实验室,100070 [3]首都医科大学附属北京天坛医院神经放射科,100070 [4]北京市神经外科研究所,100070 [5]首都医科大学附属北京天坛医院临床医学研究实验室,100070 [6]首都医科大学附属北京地坛医院检验科,100015

出　　处：《心脑血管病防治》2021年第2期164-167,共4页CARDIO-CEREBROVASCULAR DISEASE PREVENTION AND TREATMENT

基　　金：国家自然科学基金国际合作交流项目(81361120402)。

摘　　要：目的研究缺血性脑卒中患者与健康人群临床特征以及血小板内皮细胞黏附分子1(PECAM1)基因rs1867624位点、平滑肌蛋白1(LMOD1)基因rs2820315位点、蛋白C受体(PROCR)基因rs867186位点多态性差异。方法纳入2014年5月至2017年10月首都医科大学附属北京天坛医院收治的缺血性脑卒中患者326例,正常体检对照者432例,收集基本资料及临床信息。利用Real-time PCR方法,使用TaqMan探针对两组人群目标单核苷酸多态性(SNP)位点进行基因分型。结果观察组与对照组年龄、体质量指数、收缩压、舒张压、甘油三酯、总胆固醇、低密度脂蛋白胆固醇、高密度脂蛋白胆固醇、空腹血糖、糖化血红蛋白比较差异均有统计学意义(t/Z/χ^(2)=-9.738、-6.006、12.144、-6.691、-10.451、8.303、3.879、17.967、-9.328、-7.675,P<0.05)对缺血性脑卒中患者及对照组基因型频率及等位基因频率分析显示,两组人群中PECAM1基因rs1867624位点、LMOD1基因rs2820315位点、PROCR基因rs867186位点多态性分布差异均无统计学意义(χ^(2)=0.184、0.132、2.353、2.342、0.694、0.052,P>0.05)。结论缺血性脑卒中人群与健康人群rs1867624、rs2820315、rs867186三个SNP位点的基因多态性无显著差异。Objective To investigate the differences of clinical characteristics and polymorphism of platelet and endothelial cell adhesion molecule 1(PECAM1)rs1867624,leiomodin 1(LMOD1)rs2820315,protein C receptor(PROCR)rs867186 between patients with ischemic stroke and healthy population.Methods 326 patients with ischemic stroke and 432 healthy control cases admitted to Beijing Tiantan Hospital from May 2014 to October 2017 were enrolled in this research.Demographic data and clinical information were documented.Target single nucleotide polymorphism(SNP)locus of the two groups were genotyped using TaqMan assays on real-time PCR system.Results There were statistically significant differences in age,body mass index,systolic blood pressure,diastolic blood pressure,triglyceride,total cholesterol,low density lipoprotein cholesterol,high density lipoprotein cholesterol,fasting blood glucose and glycated hemoglobin between observation group and control group(t/Z/χ^(2)=-9.738,-6.006,12.144,-6.691,-10.451,8.303,3.879,17.967,-9.328,-7.675;P<0.05).The genotype analysis showed that there were no significant differences of genotype distribution of PECAM1 rs186762,LMOD1 rs2820315 and PROCR rs867186 between patients with ischemic stroke and controls(χ^(2)=0.184,0.132,2.353,2.342,0.694,0.052;P>0.05).Conclusion There is no significant difference of genotype distribution of PECAM1 rs186762,LMOD1 rs2820315 and PROCR rs867186 between patients with ischemic stroke and healthy people.

关 键 词：血小板内皮细胞黏附分子1 平滑肌蛋白1 蛋白C受体 单核苷酸多态性 缺血性脑卒中 

分 类 号：R743.3[医药卫生—神经病学与精神病学]