潮州地区心脑血管病人群氯吡格雷基因多态性分析

Clopidogrel gene polymorphism in patients with cardiovascular and cerebrovascular diseases in Chaozhou region,China

目的为探究广东潮州地区心脑血管病患者中氯吡格雷相关基因细胞色素P450家族成员2C9(CYP2C19)的多态性位点分布详情。方法以2017年10月至2022年10月在该院就诊服用氯吡格雷的心脑血管病患者作为研究对象,采用RT-PCR对患者CYP2C19基因多态性位点进行检测并DNA测序验证,评估快、中、慢代谢基因型的频率以及等位基因的分布情况,同时对男性和女性的基因型频率差异进行比较分析。结果621例心脑血管患者CYP2C19基因型频率分别为快代谢基因型(*1/*1)260例(41.87%),中代谢基因型(*1/*2、*1/*3)267例(43.00%),慢代谢基因型(*2/*2、*2/*3、*3/*3)94例(15.13%),等位基因频率依次为CYP2C19*1(63.37%),CYP2C19*2(30.68%)和CYP2C19*3(5.96%)。男、女患者CYP2C19基因型频率比较差异无统计学意义(P>0.05)。结论潮州地区心脑血管病患者氯吡格雷相关基因CYP2C19快代谢基因型和等位基因CYP2C19*1较国内其他地方略低,而慢代谢基因型和等位基因CYP2C19*3略高。CYP2C19基因型分布频率与性别无关。心脑血管患者进行氯吡格雷治疗前检测CYP2C19基因型,可指导临床制定合理安全的个体治疗方案。

ObjectiveTo investigate the gene polymorphisms of clopidogrel-related cytochrome P450 family member 2C19(CYP2C19)in patients with cardiovascular and cerebrovascular diseases in the Chaozhou region,China.Methods The patients with cardiovascular and cerebrovascular diseases who attended our hospital from October 2017 to October 2022 and were given oral administration of clopidogrel were enrolled as subjects in this study.RT-PCR was used to detect CYP2C19 gene polymorphisms,and DNA sequencing was used for validation.The distribution of genotype and allele frequencies was analyzed for patients categorized as extensive,moderate,and poor metabolizers,and the differences in genotype frequencies were compared between male and female patients.Results Among the 621 patients,there were 260 cases(41.87%)categorized as CYP2C19 extensive metabolizers(*1/*1),267 cases(43.00%)categorized as moderate metabolizers(*1/*2,*1/*3),and 94 cases(15.13%)categorized as poor metabolizers(*2/*2,*2/*3,*3/*3).and the allele frequencies of CYP2C19*1,CYP2C19*2,and CYP2C19*3 were 63.37%,30.68%,and 5.96%,respectively.There was no significant difference in the frequency of CYP2C19 genotypes between the male and female patients(P>0.05).ConclusionThe prevalence rates of the extensive metabolism genotype of the clopidogrel-related CYP2C19 gene and CYP2C19*1 allele among patients with cardiovascular and cerebrovascular diseases in Chaozhou is slightly lower than those in other regions across China.The distribution of CYP2C19 genotype frequencies is not associated with sex.CYP2C19 genotype should be determined for patients with cardiovascular and cerebrovascular diseases before clopidogrel treatment,which can help to formulate reasonable and safe individualized treatment strategies in clinical practice.