陕西地区CYP2C19基因多态性在不同性别、年龄、民族冠心病患者中的分布特征以及与国内其他地区的对比分析

Distribution of CYP2C19 gene polymorphisms in different sex,age and ethnic groups of patients with coronary heart disease in Shaanxi province and a comparative analysis with other areas in China

目的探讨陕西地区冠心病治疗患者CYP2C19基因多态性分布情况。方法选取该院冠心病治疗患者4248例,检测CYP2C19的基因型,统计等位基因及代谢表型分布特征,并对比不同地区汉族和其他民族等位基因及代谢表型分布差异。结果CYP2C19*1、CYP2C19*2和CYP2C19*33种等位基因的频率分别为64.67%、30.65%、4.68%;快代谢型(*1/*1)1749例,发生率41.17%,中间代谢型(*1/*2、*1/*3)1996例,发生率46.99%,慢代谢型(*2/*2、*2/*3、*3/*3)503例,发生率11.84%;不同性别之间基因型及代谢型分布差异无统计学意义(P>0.05);不同年龄段患者CYP2C19基因型分布差异无统计学意义(P>0.05),等位基因分布差异有统计学意义(P<0.05);我国不同地区汉族人群等位基因分布差异有统计学意义(P<0.05),代谢型分布差异无统计学意义(P>0.05);不同民族等位基因及代谢型分布差异均有统计学意义(P<0.05)。结论陕西地区冠心病患者基因型主要以CYP2C19*1/*2为主,代谢表型主要以中间代谢型为主,可以评估其氯吡格雷抵抗风险,为患者制定个体化的抗血小板治疗方案。

Objective To investigate the distribution of CYP2C19 gene polymorphism in patients with coronary heart disease(CAD)in Shaanxi province.Methods The genotype of CYP2C19 was detected in 4248 patients with coronary heart disease treated in our hospital.The distribution characteristics of alleles and metabolic phenotypes were analyzed,and the differences of alleles and metabolic phenotypes between Han and other nationalities in different regions were compared.Results The frequencies of CYP2C19*1,CYP2C19*2 and CYP2C19*3 were 64.67%,30.65%and 4.68%,respectively.As the genotype,EM(*1*1)was 41.17%(n=1749),IM(*1/*2,*1/*3)was 46.99%(n=1996),and PM(*2/*2,*2/*3,*3/*3)was 11.84%(n=503).There was no significant difference in genotype and metabolic type distribution among different genders(P>0.05),and there was no significant difference in CYP2C19 genotype distribution among different age groups(P>0.05),but there was significant difference in allele distribution(P<0.05).There were statistical differences in the distribution of alleles in different areas of Chinese Han population(P<0.05),but there was no significant difference in the distribution of metabolite(P>0.05).There were significant differences in the distribution of alleles and metabolites among different ethnic groups(P<0.05).Conclusion The genotypes of coronary heart disease patients in Shaanxi are mainly CYP2C19*1/*2,and the metabolic phenotype is mainly based on intermediate metabolites,which can assess the risk of clopidogrel resistance and develop individualized antiplatelet therapy for patients.