潮汕地区脑梗死患者CYP2C19基因多态性分析  

Analysis of CYP2C19 gene polymorphism in patients with cerebral infarction in Chaoshan area

作　　者：陈暖[1] 陈鑑强[1] 彭学宏[2] 肖颖秀[3] CHEN Nuan;CHEN Jianqiang;PENG Xuehong;XIAO Yingxiu(Department of Clinical Laboratory,The First Affiliated Hospital of Shantou University Medical College,Shantou,Guangdong 515041,China;Department of Thoracic Surgery,The First Affiliated Hospital of Shantou University Medical College,Shantou,Guangdong 515041,China;Department of Neurology,The First Affiliated Hospital of Shantou University Medical College,Shantou,Guangdong 515041,China)

机构地区：[1]汕头大学医学院第一附属医院检验科,广东汕头515041 [2]汕头大学医学院第一附属医院胸外科,广东汕头515041 [3]汕头大学医学院第一附属医院神经内科,广东汕头515041

出　　处：《重庆医学》2023年第18期2810-2814,2819,共6页Chongqing medicine

基　　金：广东省汕头市医疗卫生科技计划项目(210517166494954)。

摘　　要：目的 分析潮汕地区脑梗死患者CYP2C19基因多态性的分布特点。方法 采用PCR和DNA微阵列芯片法检测345例脑梗死患者的CYP2C19基因型,统计不同性别、年龄、不同梗死类型患者的基因型、等位基因频率及代谢型等信息,分析其中的分布差异。结果 345例脑梗死患者共检测出5种基因型,其中,杂合突变型*1/*2的检出率最高(137例,占39.71%),其次为野生型*1/*1(124例,占35.94%),双突变型*2/*2(47例,占13.62%),杂合突变型*1/*3(19例,占5.51%),双突变型*2/*3(18例,占5.22%),未检出双突变型*3/*3基因型;快代谢型(EM)124例,占35.94%,中代谢型(IM)156例,占45.22%,慢代谢型(PM)65例,占18.84%;不同性别、年龄、不同类型脑梗死患者的基因型、等位基因及代谢型分布的差异均无统计学意义(P>0.05)。结论 潮汕地区脑梗死患者CYP2C19基因型、等位基因频率、代谢型分布与性别、年龄、梗死类型无关。中代谢型患者所占比例最高,建议有条件者先行CYP2C19基因多态性检测,并根据CYP2C19基因分型指导脑梗死患者个体化精准用药。Objective To analyze the polymorphism of CYP2C19 gene in patients with cerebral infarction in Chaoshan area.Methods The CYP2C19 genotype of 345 patients with cerebral infarction was detected by PCR and DNA microarray chip.The genotype,allele frequency and metabolic type of patients with different sex,age and infarction types were analyzed.Results There were 345 patients with cerebral infarction,and a total of five genotypes were detected.Among them,heterozygous mutant*1/*2 had the highest detection rate(137 cases,39.71%),followed by wild type*1/*1(124 cases,35.94%),double mutant*2/*2(47 cases,13.62%),heterozygous mutant*1/*3(19 cases,5.51%),double mutant*2/*3(18 cases,5.22%),no double mutant*3/*3 genotype was detected;There were 124 cases of extensivemetabolizer(EM),accounting for 35.94%,156 cases of intermediate metabolizer(IM),accounting for 45.22%,and 65 cases of poor metabolizer(PM),accounting for 18.84%.There were no significant differences in the distribution of genotypes,alleles and metabolites among different gender,age and types of cerebral infarction patients(P>0.05).Conclusion The distribution of CYP2C19 genotype,allele frequency and metabolic type in patients with cerebral infarction in Chaoshan area were not related to sex,age or type of infarction.The proportion of patients with intermediate metabolizer is the highest,so it is suggested that those with conditions should first detect CYP2C19 gene polymorphism,and guide individual precision medicine for cerebral infarction patients according to CYP2C19 genotype during treatment.

关 键 词：脑梗死 CYP2C19 基因多态性 氯吡格雷 

分 类 号：R743.33[医药卫生—神经病学与精神病学]