内蒙古包头地区急性缺血性脑卒中患者CYP2C19基因多态性分析

Analysis of CYP2C19 gene polymorphism in ischemic stroke patients in Baotou area,Inner Mongolia

目的分析内蒙古包头地区急性缺血性脑卒中(IS)患者氯吡格雷相关基因CYP2C19多态性的分布情况及突变频率。方法收集2018年10月至2019年10月在包头市中心医院神经内科因急性IS接受治疗的280例患者的全血标本,检测CYP2C19基因型,按照年龄、性别等因素将被研究者分组,比较各组之间CYP2C19基因型及氯吡格雷代谢类型的分布。结果检测得到的基因型共7种,CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*2/*2,CYP2C19*1/*3,CYP2C19*2/*3,CYP2C19*1/*17,CYP2C19*2/*17,基因型分布频率分别为39.28%(110/280),38.93%(109/280),10.00%(28/280),7.14%(20/280),2.86%(8/280),1.43%(4/280),0.36%(1/280)。其中CYP2C19*1/*17属于超快代谢型,CYP2C19*1/*1属于快代谢型,CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*17属于中等代谢型,CYP2C19*2/*2、CYP2C19*2/*3属于慢代谢型,4种代谢类型分布频率分别为1.43%(4/280),39.29%(110/280),46.43%(130/280)和12.86%(36/280)。CYP2C19基因多态性在不同性别间比较,差异无统计学意义(P=0.532);氯吡格雷代谢类型在不同性别间比较,差异无统计学意义(χ^(2)=0.96,P=0.810);氯吡格雷代谢类型在男性(H=3.05,P=0.550)、女性(H=1.90,P=0.755)不同年龄段中分布比较,均差异无统计学意义。结论内蒙古包头地区急性IS患者氯吡格雷相关基因多态性主要以CYP2C19*1/*1为主,氯吡格雷代谢类型以中等代谢型为主,多数人对氯吡格雷有抵抗现象,氯吡格雷代谢类型在同性别不同年龄段无差异。

Objective To analyze the distribution and mutation frequency of clopidogrel-related gene polymorphism CYP2C19 in the ischemic stroke(IS)patients in Baotou area,Inner Mongolia.Methods Whole blood samples were collected from 280 patients who were treated for IS in the Neurology Department of Baotou Central Hospital from October 2018 to October 2019.CYP2C19 genotypes were detected.The researchers were divided into different groups according to age,sex and other factors,and the distribution of CYP2C19 genotypes and clopidogrel metabolic types were compared among the groups.Results Seven genotypes were detected,CYP2C19*1/*1,CYP2C19*1/*2,CYP2C19*2/*2,CYP2C19*1/*3,CYP2C19*2/*3,CYP2C19*1/*17,CYP2C19*2/*17,and the genotype distribution frequencies were 39.28%(110/280),38.93%(109/280),10.00%(28/280),7.14%(20/280),2.86%(8/280),1.43%(4/280),and 0.36%(1/280),respectively.CYP2C19*1/*17 belonged to super fast metabolism and CYP2C19*1/*1 belonged to faster metabolism,CYP2C19*1/*2,CYP2C19*1/*3,CYP2C19*2/*17 belonged to intermediary metabolism and CYP2C19*2/*2,CYP2C19*2/*3 belonged to slow metabolism.The metabolic frequencies of the 4 types were 1.43%(4/280),39.29%(110/280),46.43%(130/280)and 12.86%(36/280).The comparison of CYP2C19 gene polymorphisms between different genders showed no significant difference(P=0.532).There was no significant difference in the distribution of clopidogrel metabolism between different genders(χ^(2)=0.96,P=0.810),and there was no significant difference among different age groups in males(H=3.05,P=0.550)and females(H=1.90,P=0.755).Conclusion s The polymorphism of clopidogrel gene in neurology patients in Baotou is mainly CYP2C19*1/*1,and the metabolic type of clopidogrel is mainly intermediate type,indicating that most people were resistant to clopidogrel.The metabolic type of clopidogrel is not different between different age groups in the same gender.