潍坊地区汉族冠心病患者CYP2C19*2(681G>A),CYP2C19*3(636G>A)和CYP2C19*17(-806C>T)位点基因多态性分析  

Analysis of the CYP2C19*2(681G>A),CYP2C19*3(636G>A)and CYP2C19*17(-806C>T)gene polymorphism in patients with coronary heart disease in Weifang Han population

作　　者：李海波[1] 张丽丽[1] 管立学 褚锦锦 盖林林 徐栋花 LI Haibo;ZHANG Lili;GUAN Lixue;CHU Jinjin;GAI Linlin;XU Donghua(Central Laboratory,Weifang People’s Hospital,Weifang 261041,China;Lifecell(Shandong)Technology Development Co.,Ltd)

机构地区：[1]潍坊市人民医院中心实验室,山东潍坊261041 [2]来富赛尔(山东)科技发展有限公司

出　　处：《潍坊医学院学报》2021年第5期326-329,F0003,共5页Acta Academiae Medicinae Weifang

基　　金：潍坊市科技发展计划项目资助课题(项目编号:2017yx042)。

摘　　要：目的探讨潍坊地区汉族冠心病患者CYP2C19*2,CYP2C19*3,CYP2C19*17位点基因多态性分布特征,为抗血小板药物个体化治疗提供依据。方法选取2016年11月~2020年1月在我院就诊的冠心病患者240例,采用数字荧光分子杂交技术检测CYP2C19*2(rs4244285),CYP2C19*3(rs4986893)和CYP2C19*17(rs12248560)基因位点多态性。结果240例潍坊地区汉族冠心病患者CYP2C19*1,CYP2C19*2,CYP2C19*3和CYP2C19*17等位基因频率分别为66.25%,29.17%,3.96%和0.62%;其中功能缺失型等位基因(LOF)(CYP2C19*2和CYP2C19*3)频率占33.13%.检出的7种CYP2C19基因型CYP2C19*1/*17,CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*1/*3,CYP2C19*2/*17,CYP2C19*2/*2,CYP2C19*2/*3频率分别为0.42%,43.75%,39.58%,5.00%,0.83%,7.50%和2.92%,其中CYP2C19超快代谢型1例(0.42%)、快代谢型105例(43.75%)、中间代谢型109例(45.42%)和慢代谢型25例(10.41%)。男、女冠心病患者CYP2C19等位基因、基因型和CYP2C19代谢类型频率之间比较,差异均无统计学意义(χ^(2)=3.692,P=0.297;χ^(2)=4.437,P=0.618;χ^(2)=2.787,P=0.426)。结论潍坊地区汉族冠心病患者CYP2C19基因型以CYP2C19*1/*1型为主,表型以中间代谢型为主,等位基因频率分布与其它地区汉族人群基本一致。Objective To explore the distribution characteristics of CYP2C19*2,CYP2C19*3 and CYP2C19*17 gene polymorphism in patients with coronary heart disease(CHD)in Weifang Han population,in order to provide reference for the individualized treatment of anti-platelet drugs.Methods A total of 240 CHD patients in our hospital from Nov.2016 to Jan.2020 were enrolled in Weifang area.The genetic polymorphisms of CYP2C19*2(rs4244285),CYP2C19*3(rs4986893)and CYP2C19*17(rs12248560)loci were performed by digital fluorescence molecular hybridization.Results The frequency of CYP2C19*1,CYP2C19*2,CYP2C19*3 and CYP2C19*17 alleles for 240 CHD patients among the Weifang Han population was 66.25%,29.17%,3.96%and 0.62%,respectively.Among the alleles,the frequency of loss-of-function(LOF)(CYP2C19*2 and CYP2C19*3)polymorphic alleles was 33.13%.A total of 7 genotypes were detected,the frequency of CYP2C19*1/*17,CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*1/*3,CYP2C19*2/*17,CYP2C19*2/*2,CYP2C19*2/*3 genotypes was 0.42%,43.75%,39.58%,5.00%,0.83%,7.50%and 2.92%,respectively.According to the metabolic phenotype,ultra fast metabolizer 1 case(0.42%),extensive metabolizer 105 cases(43.75%),intermediate metabolizer 109 cases(45.42%)and poor metabolizer 25 cases(10.41%).There was no significant difference in CYP2C19 allele,genotype and CYP2C19 metabolic phenotype frequency between male and female patients with CHD(χ^(2)=3.692,P=0.297;χ^(2)=4.437,P=0.618;χ^(2)=2.787,P=0.426).Conclusion The CYP2C19 genotype distribution is mainly CYP2C19*1/*1 type,and the phenotype is mainly intermediate metabolism type in Weifang Han patients with CHD.The allele frequency distribution is basically consistent with that of Han population in other areas.

关 键 词：冠心病 CYP2C19基因 多态性 潍坊地区 

分 类 号：R541.4[医药卫生—心血管疾病]