阿司匹林抗血小板相关基因多态性在汉族NSTEMI患者人群中的分布OACSTPCD
Distribution of gene polymorphisms associated with aspirin antiplatelet in the Han NSTEMI population
目的:分析汉族非ST段抬高型心肌梗死(NSTEMI)患者人群中与阿司匹林抗血小板药理作用相关的GPⅢa PLA2(rs5918)、PEAR1(rs12041331)和PTGS1(rs10306114)基因的基因型结果及等位基因分布特征,为汉族NSTEMI患者的个体化治疗提供参考.方法:选取2016年1月~2022年12月首都医科大学附属北京潞河医院收治的汉族NSTEMI患者107例为研究对象.采用荧光染色原位杂交的方法对GPⅢa PLA2(rs5918)、PEAR1(rs12041331)和PTGS1(rs10306114)3个基因多态性位点进行检测分型,研究分析其基因型频率分布及等位基因分布情况,并分析汉族NSTEMI患者人群与1000 Genomes数据库中部分人群相关等位基因的分布是否存在统计学差异.结果:汉族NSTEMI患者人群中,GPⅢa PLA2(rs5918)位点上基因型频率为TT 97.20%、TC 2.80%、CC 0%,等位基因频率为T 98.60%、C 1.40%;PEAR1(rs12041331)位点上基因型频率为GG 42.06%、GA 44.86%、AA 13.08%,等位基因频率为G 64.49%、A 35.51%;PTGS1(rs10306114)位点上基因型均为AA(100%),未见AG或GG型.结论:在汉族NSTEMI患者人群中,与阿司匹林抗血小板药理作用相关的GPⅢa PLA2(rs5918)位点上突变少见,PTGS1(rs10306114)位点上未见突变,这 2 个多态性位点上均以野生型纯合子为主,而 PEAR1(rs12041331)位点上突变多见.本研究中部分结果与既往报道或相关数据库中收录的其他人群类似,也有部分结果与既往报道或其他人群存在明显差异.
Objective:To analyze the genotype and allele distribution characteristics of GPⅢa PLA2(rs5918),PEAR1(rs12041331),and PTGS1(rs10306114)genes related to the antiplatelet pharmacological effects of aspirin,providing reference for individualized treatment of Chinese Han NSTEMI patients.Methods:A total of 107 Han patients with NSTEMI in Beijing Luhe Hospital affiliated to Capital Medical University from January 2016 to December 2022 were selected as the research subjects.The genotypes of GPⅢa PLA2(rs5918),PEAR1(rs12041331)and PTGS1(rs10306114)were detected by fluorescence stain-ing in situ hybridization.The frequency distribution and allele distribution of genotype were analyzed.The results were analyzed whether there were statistical differences in the distribution of related alleles between the Han NSTEMI population and some popu-lations in the 1000 Genomes database.Results:In the Han NSTEMI population,the genotype frequencies of GPⅢa PLA2(rs5918)locus were TT 97.20%,TC 2.80%and CC 0%,the allele frequencies were T 98.60%and C 1.40%.The genotype frequencies of PEAR1(rs12041331)locus were GG 42.06%,GA 44.86%and AA 13.08%,the allele frequencies were G 64.49%and A 35.51%.The genotypes at the PTGS1(rs10306114)locus were all AA(100%),no AG or GG genotype was found.Conclusion:In the NSTEMI population of Han ethnic group,the mutation at GPⅢa PLA2(rs5918)site related to aspirin antiplatelet pharmacology is rare,and there is no mutation at PTGS1(rs10306114)site.Wild homozygotes are dominant in these two gene loci,while mutations in PEAR1(rs12041331)are more common.Some of the findings in this study are similar to those in previous reports or other populations included in the relevant database;however,some results differ from previous reports or other populations.
李六水;王飞;周澳;杨青;刘宪军
首都医科大学附属北京潞河医院,北京 101149上海市金山区中西医结合医院,上海 201501北京市朝阳区东坝第二社区卫生服务中心,北京 100015
药学
阿司匹林抗血小板非ST段抬高型心肌梗死基因多态性基因型分布
AspirinAntiplateletNon-ST-segment elevation myocardial infarctionGene polymorphismGenotype dis-tribution
《海南医学院学报》 2024 (002)
106-112 / 7
This study was supported by Capital Clinical Characteristic Application Research Project(Z181100001718144);Beijing Tongzhou District Science and Technology Plan Project(KJ2017CX036-06);In-hospital Project of Shanghai Jinshan District Integrated Traditional Chinese and Western Medicine Hospital(2022-1) 首都临床特色应用研究项目(Z181100001718144);北京市通州区科技计划项目(KJ2017CX036-06);上海市金山区中西医结合医院院内课题(2022-1)
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