皖南地区汉族缺血性脑血管病患者CYP2C19基因多态性特点分析

Analysis on the CYP2C19 gene polymorphisms in Chinese Han patients with ischemic cerebrovascular disease in southern Anhui Province

目的:探讨皖南地区汉族缺血性脑血管病患者CYP2C19*2、*3和*17位点基因多态性分布特质,指导皖南地区抗血小板药物个性化治疗。方法:回顾性分析2020年12月~2022年6月弋矶山医院诊治的905例缺血性脑血管病患者病历数据,入组患者住院期间行氯吡格雷基因检测。结果:共计纳入905例缺血性脑血管病患者,其中252例男性,653例女性,CYP2C19*2、*3和*17位点的等位基因的频率分别为30.8%、5.7%、0.7%。CYP2C19*2及*3位点GG、AA、GA基因型频率分别为47.2%、44.1%、8.7%和88.8%、10.9%、0.2%。CYP2C19*17未检测到突变纯合型,CC、CT基因型频率分别为98.6%、1.4%。超快代谢型、快代谢型、中间代谢型、慢代谢型占比分别为0.7%、67.5%、27.3%、4.4%。结论:本研究首次分析了CYP2C19*2、*3和*17位点在皖南地区汉族缺血性脑血管病患者中的分布情况,对指导皖南地区汉族人群个体化用药具有重要现实意义。

Objective:To investigate the distribution characteristics of CYP2C19*1,*2 and*17 polymorphisms in Chinese Han nationality patients with ischemic cerebrovascular disease(ICVD)in southern Anhui Province for evidence to formulate tailored use of antiplatelet drugs in population in this area.Methods:The medical data were retrospectively analyzed in 905 ICVD patients admitted to our hospital between December 2020 and June 2022.All patients included in current observation underwent clopidogrel gene testing during their hospitalization.Results:In total,905 ICVD patients were included,in whom 252 were males and 653 females.Allele frequencies at CYP2C19*2,*3,and*17 were 30.8%,5.7%and 0.7%,respectively.Genotype frequencies of GG,AA and GA at CYP2C19*2 were 47.2%,44.1%and 8.7%,respectively,and those at CYP2C19*3 were 88.8%,10.9%,0.2%respectively.No homozygous mutation was detected in CYP2C19*17.CC and CT genotype frequencies were respectively 98.6%and 1.4%.The proportion of ultra-fast,fast,intermediate and slow metabolic phenotypes was 0.7%,67.5%,27.3%and 4.4%,respectively.Conclusion:We first analyzed the distribution of CYP2C19*2,*3 and*17 loci in the Chinese Han ICVD patients in southern Anhui Province.Our findings are practical implications to formulate tailored medication for the ethnic patients in this area.