广州地区1899例心脑血管疾病患者CYP2C19基因多态性分析  

Analysis of CYP2C19 gene polymorphism in 1 899 patients with cardio-cerebrovascular in Guangzhou

作　　者：黄演婷[1] 陈小明[1] 杨小蓉[1] 黄兰兰 HUANG Yanting;CHEN Xiaoming;YANG Xiaorong;HUANG Lanlan(Laboratory Department,the First Affiliated Hospital of Guangdong Pharmaceutical University,Guangzhou 510062,China;Clinical Medical College of Guangdong Pharmaceutical University,Guangzhou 510006,China)

机构地区：[1]广东药科大学附属第一医院检验科,广东广州510062 [2]广东药科大学临床医学院,广东广州510006

出　　处：《广东药科大学学报》2023年第2期121-124,共4页Journal of Guangdong Pharmaceutical University

基　　金：国家自然科学基金青年基金(81802953)。

摘　　要：目的 分析广州地区人群中细胞色素P450酶等位基因(CYP2C19基因)多态性分布的特征,为临床氯吡格雷的使用提供参考依据。方法 2017—2022年间就诊于广东药科大学附属第一医院并拟用氯吡格雷治疗的1 899例心脑血管疾病患者为研究对象,采用荧光PCR法检测CYP2C19基因多态性结果,分析该地区人群CYP2C19基因型和代谢型分布情况。结果 1 899例检测标本中,CYP2C19*1/*1、CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*2、CYP2C19*2/*3、CYP2C19*3/*3基因型所占比例分别为40.3%、39.6%、6.6%、10.4%、2.8%、0.3%;CYP2C19代谢型(快、中、慢)所占比例分别为40.3%、46.2%、13.5%。最常见的非功能等位基因是CYP2C19*2,突变频率为31.6%。结论 广州地区心脑血管患者CYP2C19基因多态性存在个体差异。建议使用氯吡格雷抗血小板治疗时,进行CYP2C19基因分型检测,以实现个体化治疗。Objective To analyze the characteristics of polymorphism distribution of cytochrome P450 enzyme allele(CYP2C19) in Guangzhou population,and provide a reference for the use of clopidogrel in clinic.Methods A retrospective analysis was made of 1 899 cardio-cerebrovascular patients who were treated with clopidogrel in the First Affiliated Hospital of Guangdong Pharmaceutical University between 2017 and 2022.The polymorphism of CYP2C19 gene was detected by fluorescence PCR,and the distribution of CYP2C19 genotype and metabolic type in cardio-cerebrovascular patients were analyzed.Results Among 1899 samples tested,the proportions of CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*1/*3,CYP2C19*2/*2,CYP2C19*2/*3 and CYP2C19*3/*3 genotypes were 40.3%,39.6%,6.6%,10.4%,2.8% and 0.3%,respectively.The proportion of CYP2C19 metabolic type(fast,medium and slow) was 40.3%,46.2% and 13.5%,respectively.The most common non-functional allele is CYP2C19*2,with a mutation frequency of 31.6%.Conclusion There are individual differences in CYP2C19gene polymorphism in cardio-cerebrovascular patients in Guangzhou.It is recommended to carry out CYP2C19genotyping test when clopidogrel is used for antiplatelet therapy to achieve individualized treatment.

关 键 词：CYP2C19 基因多态性 非功能等位基因 氯吡格雷 

分 类 号：Q786[生物学—分子生物学]