北京地区冠心病患者CYP2C19基因多态性检测

The Genetic Polymorphism Analysis of CYP2C19 in Patients with Coronary Heart Disease in Beijing City

目的分析北京地区冠状动脉粥样硬化性心脏病(简称冠心病)患者CYP2C19基因多态性分布特点,探讨性别和年龄与CYP2C19基因多态性的关系。方法收集2017年4月至2018年3月于我院心脏内科就诊需服用氯吡格雷进行抗血小板治疗的冠心病患者260例,用实时荧光PCR方法对患者进行CYP2C19基因多态性检测,根据Hardy-Weinberg遗传平衡定律检测样本的群体代表性,计算各基因型、等位基因和代谢型分布的频率,比较年龄、性别与代谢型分布的相关性。结果 260例冠心病患者中,野生型纯合子CYP2C19*1/*1和突变杂合子*1/*2所占比例最多,分别为95例(36.55%)和103例(39.63%);等位基因*1所占比例最多(59. 80%);正常代谢型和中代谢型所占比例最多,分别为95例(36. 54%)和121例(46. 54%);不同性别、不同年龄的各基因代谢型分布差异无统计学意义。结论北京地区冠心病患者CYP2C19的基因分布与中国正常人群相似,性别、年龄与代谢型无相关性。

Objective To analyze the genetic polymorphism of CYP2C19 gene in patients with coronary atherosclerotic heart disease(CAD)in Beijing city,and to explore the relationships between gender,age and the genetic polymorphism of CYP2C19 gene.Methods 260 patients with coronary heart disease who were treated with clopidogrel for antiplatelet therapy in the cardiology department of our hospital during April,2017 to March,2018 were collected for the study.We then detected the CYP2C19 genetic polymorphism of these patients by real time fluorescence PCR method.According to the Hardy-Weinberg genetic balance law,we detected the group representation of the samples and calculated the frequency of genotypes,alleles and metabolic type.The correlations between patient age,gender and metabolic type were compared.Results In the 260 cases of CHD patients,the proportion of wild type homozygote CYP2C19*1/*1 and mutant heterozygote*1/*2 accounted for the most,with 95 cases(36.55%)and 103 cases(39.63%),respectively.The proportion of allele*1 accounted for 59.80%,and the proportion of normal metabolic type and medium metabolic type was the most,with 95 cases(36.54%)and 121 cases(46.54%),respectively.There was no significant difference across different gender,age and metabolic type.Conclusion The genetic polymorphism of CYP2C19 in patients with CHD in Beijing is similar to that in Chinese normal population.There is no correlation between gender,age and metabolic type.