中国人群β纤维蛋白原基因启动子区域单核苷酸多态性与冠心病的关系  

Relationship between Single Nucleotide Polymorphisms in the 5'-Promoter Region of Beta Fibrinogen Gene and Coronary Artery Disease:A Case-Control Study in Chinese Population.

作　　者：金玮[1] 刘艳[1] 姜正文 张奎星 袁文涛 盛海晖 金嶙 沈亚云 顾玮 黄薇 于金德[1] 

机构地区：[1]上海第二医科大学附属瑞金医院心内科,200025 [2]国家人类基因组南方研究中心,201203

出　　处：《诊断学理论与实践》2002年第4期224-228,共5页Journal of Diagnostics Concepts & Practice

基　　金：上海市科技发展基金(No.974119003)

摘　　要：目的:在中国人群中检测β纤维蛋白原基因启动子区域的单核苷酸多态性(singlenucleotidepolymorphisms,SNPs),并探讨其与冠心病发病的关系。方法:应用PCR直接测序技术检测β纤维蛋白原基因启动子区域序列,结合多重SNaPshot反应在224例冠心病病人和164名健康对照者中对所检测的SNPs进行基因分型并统计分析。结果:在β纤维蛋白原基因启动子区域发现5个SNPs,其中β鄄993(C/T)多态为首次报道,β鄄249(C/T)多态的基因型分布在冠心病组(C/C=55、C/T=105、T/T=64)和对照组(C/C=21、C/T=83、T/T=60)相比差异有显著性(χ2=8.847,P=0.012),冠心病组的C等位基因频率显著高于对照组(分别为0.48和0.38,P=0.006)。结论:在中国人群中,β纤维蛋白原基因β鄄249(C/T)多态性可能与冠心病的发病有关。Objective:To evaluate the relationship between single nucleotide polym orphisms(SNPs)in the5'promoter region of beta fibrinogen gene and the occurrence of coronary artery disease(CAD)in Chinese populations.Methods:SNPs detec-tion was performed by PCR-sequencing in the5'promoter region of beta fibrinogen gene .The genotype was determined by the method of the ABI PRISM SNaPshot Multiplex K it in a total number of 224 unrelated CAD patients diagnosed by an-giography an d 164 healthy controls.Results:Five SNPs were discovered in the5'promoter region of beta fibrinogen gene,among them,B-993(C/T)polymorphism was firstly reported .However,the genotype distribution of a-249(C/T) polymophism was obviously dif ferent between the group of CAD (C/C=55,C/T=105,T/T=64) and those without CAD(C/ C=21,C/T=83,T/T=60,÷ 2 =8.847,P=0.012).And the C allele frequency of CAD patients was significantly higher(0.48vs0.38, P=0.006)than the normal controls.Conclusions:a-249(C/T)pol ymorphism of beta fibrinogen gene is most likely associated with occurrence of C AD in Chinese populations.

关 键 词：中国人群 Β纤维蛋白原 冠心病 单核苷酸多态性 基因启动子区域 

分 类 号：R541.4[医药卫生—心血管疾病]