【摘要】 目的 了解某三甲医院心脑血管疾病患者人群抗栓药物治疗相关基因多态性分布情况，为临床抗栓药物的个体化应用提供精准指导。方法 收集2023年9月至2024年9月于西安交通大学第二附属医院就诊的心脑血管疾病患者样本468例，采用荧光PCR-毛细管电泳法检测患者的CYP2C19*2、CYP2C19*3、CYP2C19*17、CYP2C9*2、CYP2C9*3和VKORC1-1639G>A位点，分析其基因型和代谢表型的分布频率。结果 在468例患者中，CYP2C9*3位点频率不符合Hardy-Weinberg平衡（P<0.05），其余5个位点均符合平衡定律。未检出CYP2C9*2等位基因，CYP2C19*2、CYP2C19*3、CYP2C19*17、CYP2C9*3和VKORC1-1639G>A频率分别为27.9%、5.6%、2.5%、5.1%和91.3%。氯吡格雷抵抗相关的CYP2C19基因多态性以中间代谢型占比最高，正常代谢型次之。华法林疗效相关的CYP2C9和VKORC1基因多态性分别以快代谢型（*1/*1）和敏感性高（AA）为主。不同性别患者CYP2C19、CYP2C9和VKORC1基因型分布比较，差异无统计学意义（P>0.05）。结论 本院心脑血管疾病患者中，氯吡格雷抵抗相关的CYP2C19基因多态性表现出一定分布特征，其中CYP2C19中间和慢代谢型合计占比高达55.3%。华法林疗效相关的CYP2C9和VKORC1基因多态性分别以快代谢型（*1/*1）和敏感性高（AA）为主。更多还原

【Abstract】 Objective To investigate the distribution of antithrombotic drug gene polymorphisms in the population of cardiovascular and cerebrovascular disease patients in a certain Grade-3A hospital, and to provide precise guidance for the individualized application of antithrombotic drugs in clinical practice. Methods A total of 468 samples was collected from patients with cardiovascular and cerebrovascular diseases who visited the Second Affiliated Hospital of Xi’an Jiaotong University from September 2023 to September 2024. The CYP2C19*2, CYP2C19*3, CYP2C19*17, CYP2C9*2, CYP2C9*3, and VKORC1-1639G>A loci were genotyped using the fluorescence PCR-capillary electrophoresis method. The distribution frequencies of the genotypes and metabolic phenotypes were analyzed. Results Among the 468 patients, the CYP2C9*3 locus was not in Hardy-Weinberg equilibrium(P<0.05), but the other five loci were in Hardy-Weinberg equilibrium. The CYP2C9*2 locus was not detected. The frequencies of the CYP2C19*2, CYP2C19*3, CYP2C19*17, CYP2C9*3, and VKORC1-1639G>A loci were 27.9%, 5.6%, 2.5%, 5.1%, and 91.3%, respectively. The CYP2C19 genetic polymorphisms associated with clopidogrel resistance were most frequently intermediate metabolizers, followed by normal metabolizers. The CYP2C9 and VKORC1 genetic polymorphisms associated with warfarin efficacy were predominantly rapid metabolizers(*1/*1) and highly sensitive(AA), respectively. A comparison of the genotype distributions of CYP2C19, CYP2C9, and VKORC1 between male and female patients revealed no statistically significant differences(P>0.05). Conclusion In our hospital, patients with cardiovascular and cerebrovascular diseases show certain distribution characteristics in genetic polymorphisms of CYP2C19 related to clopidogrel resistance. The combined proportion of intermediate and poor metabolizers of CYP2C19 can reach as high as 55.3%. Genetic polymorphisms of CYP2C9 and VKORC1 related to warfarin efficacy are mainly characterized by rapid metabolizers(*1/*1) and high sensitivity(AA), respectively.更多还原