山西地区心脑血管疾病患者CYP2C19基因多态性检测

Study of CYP2C19 gene polymorphism in patients with cardiovascular and cerebrovascular diseases in Shanxi Province

目的研究心脑血管疾病患者CYP2C19的基因多态性,分析其是否与年龄、性别差异有关,为氯吡格雷的个体化用药提供指导依据。方法使用荧光定量PCR法,测定送检的776例考虑接受氯吡格雷抗血栓治疗的心脑血管疾病患者的CYP2C19基因型,分析年龄、性别与其基因多态性的关系。结果共检测出4种基因型,分别为CYP2C19*1/*1(42.14%)、*2/*2(10.82%)、*3/*3(1.03%)、*3/*17(46.01%);3种代谢表型,分别为快代谢型即正常代谢型(42.14%)、中代谢型(46.01%)、慢代谢型(11.85%),代谢表型与相关报道中所占的频率相似;患者CYP2C19基因型和代谢表型与性别差异均有统计学意义(均P<0.05);患者CYP2C19基因型和代谢表型与年龄差异均无统计学意义(均P>0.05)。结论山西地区心脑血管疾病患者中以正常代谢型、中代谢型患者为主,符合亚洲人群分布,其中基因型为CYP2C19*1/*1与*3/*17的患者人数最多,同时尚不可认为可以根据CYP2C19基因型、代谢表型与年龄、性别的差异指导用药,还需根据患者自身情况给予个体化用药治疗。

Objective Study the gene polymorphism of CYP2C19 in patients with cardiovascular and cerebrovascular diseases,analyze whether it is related to age and sex differences,and provide guidance for the individualized medication of clopidogrel.Methods Using real-time PCR,to monitor the genotype of CYP2C19 for 776 patients with cardiovascular and cerebrovascular diseases,who were considered to receive clopidogrel antithrombotic therapy,and the correlation between age,sex and their genetic polymorphisms was analyzed.Results Four genotypes were detected,which were CYP2C19*1/*1(42.14%),*2/*2(10.82%),*3/*3(1.03%)and*3/*17(46.01%).The three metabolic phenotypes were extensive metabolizer/EM(42.14%),intermediata metabolizer/IM(46.01%)and poor metabolizer/PM(11.85%).The metabolic phenotypes were similar to those of related report.The CYP2C19 genotype and metabolic phenotype was associated with an increased rate of male and female patients(all P<0.05).There was no significant difference among patients of different age in CYP2C19 genotype and metabolic phenotype(all P<0.05).Conclusions The patients with cardiovascular and cerebrovascular diseases in Shanxi are mainly EM and IM patients,which is in line with Asian population distribution,and the number of patients with genotype CYP2C19*1/*1 and*3/*17 is the largest.At the same time,it can not be considered to be guided according to the differences of CYP2C19 genotype,metabolic phenotype and the age,sex in drug use,still need according to the patient's own situation to give individualized medication treatment.