摘要
目的探讨金华地区汉族人群CYP2C19基因多态性的分布特征。方法选取2017年9月至2021年2月就诊于浙江大学医学院附属金华医院且拟用氯吡格雷治疗的527例患者为研究对象,采用飞行时间质谱检测技术进行氯吡格雷用药基因多态性检测,分析该地区人群的CYP2C19等位基因、基因型及代谢表型的分布情况,并比较不同性别、年龄患者的基因多态性。结果金华地区汉族人群CYP2C19*2、CYP2C19*3、CYP2C19*17等位基因发生频率分别为33.40%、4.08%、0.38%;其中CYP2C19基因型以1*/2*(42.88%)、1*/1*(37.76%)多见,而2*/17*(0.19%)、1*/17*(0.57%)较为少见;代谢表型以中间代谢型(48.38%)、快代谢型(37.76%)多见,而超快代谢型(0.57%)较为少见。不同性别、年龄患者CYP2C19基因型及代谢表型频率比较,差异均无统计学意义(均P>0.05)。结论金华地区汉族人群CYP2C19基因多态性存在个体差异,以CYP2C19*2等位基因突变多见,基因型以1*/2*居多,代谢表型以中间代谢型居多;患者性别、年龄对基于CYP2C19基因多态性的个体化精准诊疗影响不大。
Objective To investigate the distribution characteristics of the CYP2C19 gene polymorphisms of Han population in Jinhua.Methods A total of 527 patients who were treated with clopidogrel in Jinhua Hospital affiliated to Zhejiang University from September 2017 to February 2021 were selected.The gene polymorphism of clopidogrel metabolism was detected by time-of-flight mass spectrometry.The distribution of CYP2C19 alleles,genotypes and metabolic phenotypes in population of this area were analyzed,and the gene polymorphisms of patients with different genders and ages were compared.Results The allele frequencies of CYP2C19*2,CYP2C19*3 and CYP2C19*17 of Han population in Jinhua were 33.40%,4.08%and 0.38%,respectively.Among them,the 1*/2*(42.88%)and 1*/1*(37.76%)of CYP2C19 genotypes were more common,while 2*/17*(0.19%)and 1*/17*(0.57%)were rare.Otherwise,IM(48.38%)and EM(37.76%)were the most common metabolic phenotypes,while UM(0.57%)was rare.However,there was no significant difference in CYP2C19 genotypes and metabolic phenotypes among different genders and ages(all P>0.05).Conclusion There are individual differences in CYP2C19 genotypes of Han population in Jinhua,mainly with CYP2C19*2 allele mutation,1*/2*of genotypes and IM of metabolic phenotypes.However,the gender and age of patients have little effect on individualized precise diagnosis and treatment based on CYP2C19 gene polymorphism.
作者
陈红芳
潘小玲
程兴
张美霞
潘昕然
CHEN Hongfang;PAN Xiaoling;CHENG Xing;ZHANG Meixia;PAN Xinran(Department of Neurology,Affiliated Jinhua Hospital,Zhejiang University School of Medicine,Jinhua 321000,China)
出处
《心电与循环》
2022年第1期33-36,共4页
Journal of Electrocardiology and Circulation
基金
金华市科学技术研究计划项目(2020-3-026)
金华市中心医院基础研究专项科研基金项目(JY2020-6-05)。
