4211例ACS患者CYP2C19基因多态性单中心研究  

A Single-Center Study of CYP2C19 Gene Polymorphism in 4211 Patients with ACS

作　　者：颜新生 王栋 张丹[1] 胡元萍 张真路[2] 连姝文 YAN Xinsheng;WANG Dong;ZHANG Dan;HU Yuanping;ZHANG Zhenlu;LIAN Shuwen(Wuhan Asia General Hospital ofAffiliated to Wuhan University of Science and Technology,Wuhan 430056,China;Wuhan Asia Heart Hospital ofAffiliated to Wuhan University,Wuhan 430022,China)

机构地区：[1]武汉科技大学附属武汉亚心总医院,湖北武汉430056 [2]武汉大学附属武汉亚洲心脏病医院,湖北武汉430022

出　　处：《标记免疫分析与临床》2023年第3期432-437,共6页Labeled Immunoassays and Clinical Medicine

基　　金：武汉市卫生健康委员会青年项目(编号:WX21Q29)。

摘　　要：目的探讨本地区急性冠脉综合征(ACS)患病人群中CYP2C19基因多态性分布特征,为临床医生个体化用药提供参考。方法采用多通道实时荧光定量PCR方法,对就诊于武汉亚心总医院和武汉亚洲心脏病医院的4211例ACS患者进行CYP2C19基因*2、*3、*17三个位点等位基因检测,计算基因型、代谢表型的分布频率,分析本地区ACS人群CYP2C19基因多态性分布情况。结果在4211例ACS人群中,共检出10种基因型,其中*1/*1和*1/*2占比最多,分别为1624例(38.57%)和1701例(40.39%)。根据CYP2C19基因多态性功能代谢表型分型,携带CYP2C19*17的超强代谢型(*1/*17、*17/*17)占1.07%,携带CYP2C19*1纯合子的强代谢型(*1/*1)占38.57%,携带CYP2C19*2或CYP2C19*3杂合子的中间代谢型(*1/*2、*1/*3、*2/*17、*3/*17)占46.59%,以及只携带CYP2C19*2和/或CYP2C19*3的弱代谢型(*2/*2、*2/*3、*3/*3)占13.77%。CYP2C19*2、CYP2C19*3、CYP2C19*17等位基因分布频率符合Hardy-Weinberg平衡定律。代谢表型分布频率在不同性别、不同年龄段以及ACS不同亚组中的差异无统计学意义(P>0.05)。结论本地区急性冠脉综合征人群CYP2C19基因多态性的分布以*1/*1和*1/*2为主,代谢表型分布以强代谢型和中间代谢型为主,各代谢表型的分布无性别、年龄差异,不受急性冠脉综合征的分类影响。Objective To investigate the polymorphism distribution of CYP2C19 gene in patients with acute coronary syndrome(ACS)in local area,and to provide references for individualized drug use by clinicians.Methods 4211 patients with ACS admitted to Wuhan Sub-cardiac General Hospital and Wuhan Asia Cardiology Hospital were tested for CYP2C19 gene*2,*3,*17 alleles by multi-channel real-time quantitative PCR,and the distribution frequency of genotype and metabolic phenotype was calculated.The polymorphism distribution of CYP2C19 gene in ACS population in local area was analyzed.Results A total of 10 genotypes were detected in 4211 patients with ACS,of which*1/*1 and*1/*2 accounted for the most,with 1624 cases(38.57%)and 1701 cases(40.39%),respectively.According to the functional metabolic phenotypic typing of CYP2C19 gene polymorphism,ultra-strong metabolites carrying CYP2C19*17(*1/*17,*17/*17)accounted for 1.07%,while homozygous metabolites carrying CYP2C19*1(*1/*1)accounted for 38.57%.Intermediate metabolites carrying CYP2C19*2 or CYP2C19*3 heterozygotes(*1/*2,*1/*3,*2/*17,*3/*17)were 46.59%,and weak metabolites carrying only CYP2C19*2 and/or CYP2C19*3(*2/*2,*2/*3,*3/*3)accounted for 13.77%.The distribution frequencies of alleles of CYP2C19*2,CYP2C19*3 and CYP2C19*17 conformed to Hardy-Weinberg equilibrium law.There was no significant difference in the distribution frequency of metabolic phenotype among different genders,ages and ACS subgroups(P>0.05).Conclusion The distribution of CYP2C19 gene polymorphisms is mainly*1/*1 and*1/*2 in the population with acute coronary syndrome in local area,and the distribution of metabolic phenotypes is mainly strong and intermediate metabolites.The distribution of metabolic phenotypes is not affected by the classification of acute coronary syndromes without gender or age difference.

关 键 词：急性冠脉综合征 CYP2C19 基因多态性 氯吡格雷 个体化用药 

分 类 号：R541.4[医药卫生—心血管疾病]