广东佛山地区冠心病患者CYP2C19基因多态性分析

Polymorphism analysis of CYP2C19 gene among patients with coronary heart disease in Foshan area of Guangdong Province

目的探讨广东佛山地区冠心病患者CYP2C19基因的多态性分布特征。方法采用DNA微阵列芯片法对1 083例冠心病患者进行CYP2C19基因分型,比较不同地区人群之间CYP2C19基因多态性分布的差异。结果在1 083份检测标本中,CYP2C19*1、*2及*3等位基因的频率分别为63.57%、31.12%、5.31%;CYP2C19分3种代谢型,快代谢型(*1/*1)占40.90%,中间代谢型(*1/*2、*1/*3)占45.34%,慢代谢型(*2/*2、*2/*3、*3/*3)占13.76%。佛山地区代谢型分布与广州和东莞地区相似,而与汕头地区却差异有统计学意义(P<0.05)。结论佛山地区冠心病患者中有较多的CYP2C19代谢功能缺失基因,临床用药前应加强患者基因检测,调整用药剂量或种类,实现精准治疗。

Objective To investigate the polymorphisms distribution characteristics of CYP2C19 gene among the patients with coronary heart disease （CHD） in Foshan area of Guangdong Province. Methods The CYP2C19 genotyping was performed by adopting the DNA microarray in 10 83 patients with CHD.Then the distribution differences of CYP2C19 gene polymorphisms were compared among different areas of population. Results Among 1 083 detected samples,the allele frequencies of CYP2C19＊1,CYP2C19＊2 and CYP2C19＊3 were 63.57%,31.12% and 5.31% respectively;CYP2C19 included three metabolic types,rapid metabolism type （＊1/＊1） accounted for 40.90%,intermediate metabolism type （＊1/＊2,＊1/＊3） accounted for 45.34 %,and slow metabolism type （＊2/＊2,＊2/＊3,＊3/＊3） accounted for 13.76%.The distribution of metabolic types in Foshan area was similar to that of Guangzhou area and Dongguan area,but compared with Shantou area,the difference had statistical significance （ P 〈0.05）. Conclusion The CHD patients in Foshan area have many CYP2C19 metabolism functional deletion genes.The gene detection should be strengthened before patient′s clinical medication for adjusting the medication dosage or categories to realize the precise treatment.