广东省肇庆地区冠心病患者CYP2C19基因多态性差异性分布

Differential distribution of CYP2C19 gene polymorphism in coronary heart disease patients in Zhaoqing,Guangdong Province

目的探讨广东省肇庆地区冠心病(CHD)患者CYP2C19基因多态性分布,并比较不同性别和不同地区间CYP2C19基因多态性的分布,为CHD患者抗血小板治疗的个体化用药策略提供理论基础。方法2019年6月-2020年11月诊断为CHD的501例患者均采用数字荧光分子杂交技术对CYP2C19*2、CYP2C19*3和CYP2C19*17进行基因多态性检测。结果在501例CHD患者中,CYP2C19*1*17、CYP2C19*1*1、CYP2C19*1*2、CYP2C19*1*3、CYP2C19*2*2、CYP2C19*2*3的基因型所占比例分别为0.80%、44.11%、36.13%、6.39%、8.98%、3.59%;CYP2C19的代谢表型:超快代谢型(UM)、快代谢型(EM)、中间代谢型(IM)、慢代谢型(PM)所占比例分别为0.80%、44.11%、42.51%、12.58%;CYP2C19*1、*2、*3和*17等位基因频率分别为65.77%、28.84%、4.99%、0.40%。不同性别间的CHD患者CYP2C19基因型、等位基因和代谢型分布差异无统计学意义(P>0.05);肇庆地区CHD患者CYP2C19等位基因、代谢型分布与广州、佛山、东莞、梅州客家、粤北地区进行比较,差异无统计学意义(P>0.05)。结论肇庆地区CHD患者存在CYP2C19基因多态性,其中CYP2C19*2和CYP2C19*3功能缺失型等位基因所占比例较高,建议CHD患者应用氯吡格雷抗血小板治疗前对CYP2C19基因多态性进行检测,评估氯吡格雷的抵抗风险,为患者制定合理的个体化用药方案。

Objective To investigate the distribution of CYP2C19 gene polymorphism in patients with coronary heart disease(CHD)in Zhaoqing,Guangdong Province,and to compare the distribution of CYP2C19 gene polymorphism in gender and that in other regions in Guangdong Province,so as to provide theoretical basis of individualized medication for antiplatelet therapy in CHD patients.Methods A total of 501 CHD patients from June 2019 to November 2020 were detected for CYP2C19*2,CYP2C19*3 and CYP2C19*17 gene polymorphisms by digital fluorescence molecular hybridization technology.Results In 501 CHD patients,the genotype proportion of CYP2C19*1*17,CYP2C19*1*1,CYP2C19*1*2,CYP2C19*1*3,CYP2C19*2*2 and CYP2C19*2*3 were 0.80%,44.11%,36.13%,6.39%,8.98%and 3.59%,respectively;the proportion of metabolic phenotypes of CYP2C19:ultrafast(UM),extensive(EM),intermediate(IM)and poor(PM)were 0.80%,44.11%,42.51%and 12.58%,respectively.The allele frequencies of CYP2C19*1,*2,*3 and*17 were 65.77%,28.84%,4.99%and 0.40%,respectively.There were no significant difference in the distribution of CYP2C19 genotypes,alleles and metabolisms in different genders(P>0.05);there were no significant difference in the distribution of CYP2C19 alleles and metabolisms among Zhaoqing,Guangzhou,Foshan,Dongguan,Meizhou Hakka,as well as Northern Guangdong(P>0.05).Conclusion CYP2C19 gene polymorphism exists in CHD patients in Zhaoqing area,and the proportion of CYP2C19*2 and CYP2C19*3 functional deletion alleles is relatively higher.It is suggested that CYP2C19 gene polymorphism should firstly be detected in CHD patients before clopidogrel antiplatelet therapy,so as to evaluate the resistance risk of clopidogrel and develop a reasonable individualized medication plan for patients.