广东东莞地区心血管疾病患者CYP2C19基因多态性分析

目的研究广东东莞地区心血管病患者CYP2C19基因的多态性分布。方法选取心内科心血管疾病患者1 662例,抽取外周血并提取基因组DNA,用PCR技术结合基因芯片技术检测患者的CYP2C19基因型。对年龄45岁和年龄≥45岁冠心病患者CYP2C19等位基因频率和代谢表型频率进行比较。结果在1 662例患者中,CYP2C19代谢型713例(42.90%),中间代谢型740例(44.52%),慢代谢209例(12.58%)。CYP2C19*1、CYP2C19*2、CYP2C19*3等位基因频率分别为65.16%、30.08%、4.75%。45岁组检出快代谢型104例(40.00%),中间代谢型104例(45.38%),慢代谢型38例(14.62%)。≥45岁冠心病组检出快代谢型609例(43.44%),中间代谢型622例(44.37%),慢代谢171例(12.20%)。45岁与≥45岁组各基因型的比例比较,差异无统计学意义(P0.05)。结论通过检测CYP2C19基因型确定患者遗传特征,可以评估其氯吡格雷抵抗风险,为患者制订个体化的抗血小板治疗方案。

Analysis on CYP2C19 polymorphism among patients with cardiovascular diseases in Dongguan area

Objective To investigate the distribution status of cytochrome CYP2C19 polymorphisms among patients with cardio-vascular diseases in Dongguan area .Methods A total of 1662 patients with cardiovascular diseases (CVD) in our hospital were se-lected .The peripheral blood was collected for extracting genomic DNA .The CYP2C19 genotype was detected by the polymerase chain reaction (PCR) combined with gene chip technology .The allele frequency and metabolic phenotype of CYP2C19 were com-pared between the CVD patients aged lower than 45 years and aged higher than 45 years old .Results Among 1662 cases ,713 cases (42 .90% ) were CYP2C19 extensive metabolizer ,740 cases(44 .52% ) were moderate metabolizer and 209 cases (12 .58% ) were poor metabolizer .The allele frequencies of CYP2C19﹡1 ,CYP2C19﹡2 and CYP2C19﹡3 were 65 .16% ,30 .08% and 4 .75% re-spectively .One hundred and four cases (40 .00% ) of extensive metabolisms were detected in the lower than 45 years old group ,104 cases(45 .38% ) of moderate metabolisms and 38 cases (14 .62% ) were detected .In the higher than 45 years old group ,609 cases (43 .44% ) of extensive metabolisms ,622 cases of moderate metabolisms and 171 cases(12 .20% ) of poor metabolism were detec-ted .The proportion of various genotypes had no statistical difference between the lower than 45 year old group and higher than 45 year old group(P>0 .05) .Conclusion Detecting CYP2C19 genotype for determining the genetic characteristics can evaluate the clopidogrel resistance risk and formulate the personalized anti-platelet therapeutic scheme .