GPⅢa PLA2、PEAR1、PTGS1基因多态性在中国汉族冠心病患者人群中的分布研究

Genetic polymorphism distributions of GPⅢa PLA2,PEAR1,PTGS1 in Chinese Han patients with coronary heart disease

目的探讨中国汉族冠心病患者人群中与阿司匹林疗效相关的血小板膜糖蛋白Ⅲa受体血小板抗原2(GPⅢa PLA2)、血小板内皮聚集受体1(PEAR1)、前列腺素内过氧化物合酶1(PTGS1)基因多态性的分布特征。方法用荧光染色原位杂交技术检测中国汉族冠心病患者的GPⅢa PLA2、PEAR1、PTGS1基因型,完成相关位点等位基因检测,分析基因多态性的分布特征。结果本研究共筛选1421例,入组769例。GPⅢa PLA2位点上TT型占97.79%,TC型只占2.21%,未见CC型;PEAR1位点上GG、GA、AA型分别占40.57%、44.34%和15.08%;PTGS1位点上全部为AA型(100.00%),未见突变型。结论在中国汉族冠心病患者人群中,与阿司匹林疗效相关的GPⅢa PLA2和PTGS1基因位点上突变情况极少,均以野生型纯合子为主,而PEAR1位点上突变多见。

Objective To survey the genetic polymorphism distributions of platelet membrane glycoproteinⅢa receptor platelet antigen 2(GPⅢa PLA2),platelet endothelial aggregation receptor 1(PEAR1),prostaglandin endoperoxide synthase 1(PTGS1)gene associated with aspirin efficacy in Chinese Han patients with coronary heart disease.Methods The genotypes of GPⅢa PLA2,PEAR1,PTGS1 in Chinese Han patients with coronary heart disease were detected by fluorescence staining in situ hybridization.Alleles of related loci were detected and the distribution characteristics of gene polymorphisms were analyzed.Results A total of 1421 cases were screened and 769 were enrolled in this study.TT type accounted for 97.79%,TC type accounted for 2.21%,and no CC type was found in GPⅢa PLA2 sites.At PEAR1 GG,GA and AA types accounted for 40.57%,44.34%and 15.08%,respectively.All the PTGS1 loci were AA type(100.00%),no mutation was found.Conclusion In Chinese Han population with coronary heart disease,there were few mutations in the GPⅢa PLA2 and PTGS1 gene loci related to the efficacy of aspirin,which were mainly wild homozygotes,while mutations in the PEAR1 locus were common.