云南红河彝族人群CYP2C9和VKORC1基因突变频率与华法林维持剂量的关系  

The relationship between CYP2C9 and VKORC1 mutations frequency and Warfarin maintenance dose in Honghe Yi ethnic group of Yunnan Province

作　　者：娄云丽 熊浩 欧海波 钱孟佼 刘旭[3] LOU Yunli;XIONG Hao;OU Haibo;QIAN Mengjiao;LIU Xu(Department of Medical Records and Statistics,Southern Central Hospitalof Yunnan Province/First People's Hospital of Honghe Prefecture,Honghe Yunnan 661100,China;Department of Cardiothoracic Surgery,Southern Central Hospitalof Yunnan Province/First People's Hospital of Honghe Prefecture,Honghe Yunnan 661100,China;Department of Cardiac Surgery,Affiliated Hospital of Qingdao University,Affiliated Cardiovascular Hospital of Qingdao University,Qingdao Shandong 266000,China)

机构地区：[1]云南省滇南中心医院/红河州第一人民医院病案统计科,云南蒙自661100 [2]云南省滇南中心医院/红河州第一人民医院心胸外科,云南蒙自661100 [3]青岛大学附属医院/青岛大学附属心血管病医院心脏外科,山东青岛266000

出　　处：《云南医药》2023年第6期1-5,共5页Medicine and Pharmacy of Yunnan

基　　金：青岛大学医疗集团科研项目(YLJT20201004)。

摘　　要：目的 研究云南红河彝族人群CYP2C9、VKORC1基因突变频率与华法林维持剂量的关系,为该地区少数民族心脏瓣膜置换术后的抗凝策略提供科学依据。方法 以心脏瓣膜置换术后的彝族和汉族患者为实验组及对照组,收集患者年龄、性别、体重、身高、INR值等基线资料,采集外周血实时荧光定量PCR检测CYP2C9和VKORC1基因分型,比较2组间遗传基础信息、INR值、CYP2C9和VKORC1-1639G>A基因分型的差异;分析2组间华法林实际用量的差异。结果 红河彝族患者体表面积、INR值、高血压与冠心病患病率均低于汉族人群(P<0.001)。2组人群均以CYP2C9*1/*1野生纯合型及VKORC1-1639 AA突变纯合基因型为主,AWD值总体分布在2.0~3.0mg/d,且在2组人群中无显著性差异;但彝族VKORC1-1639 AA纯合突变率低于汉族人群。结论 红河彝族VKORC1-1639 AA纯合突变率虽低于汉族人群,但仅靠CYP2C9和VKORC1代谢相关基因的遗传多态性并不能准确估算华法林实际剂量。Objective The purpose of this study was to investigate the relationship between CYP2C9 and VKORC1 mutations frequency and the maintenance dose of Warfarin in of Honghe Yi ethnic group of Yunnan Province,and to provide a scientific basis for optimizing the anticoagulation strategy of valve replacement for the ethnic minorities patients in this region.Methods Yi nationality patients with cardiac valve replacement were used as the experimental group,while Han nationality patients were used as the control group,the patients age,sex,weight,height,INR value and other basic data were collected.Peripheral blood was collected and the genotypes of CYP2C9 and VKORC1 were detected by real-time quantitative PCR.The genetic information,INR,CYP2C9 and VKORC1-1639g>A genotypes were compared between the two groups;Analyzed the difference in the actual dose of Warfarin between the two groups.Results The body surface area,INR,the prevalence of hypertension and coronary heart disease in Honghe Yi nationality were lower than those in Han nationality(P<0.001).The CYP2C9*1/*1 wild genotype and VKORC1-1639 AA mutation genotype were dominant in both groups,and the AWD values were generally distributed in the range of 2.0-3.0 mg/day,and there was no significant difference between the two groups.However,the homozygous mutation rate of VKORC1-1639 AA in Yi nationality was lower than that in Han nationality.Conclusions Although the homozygous mutation rate of VKORC1-1639 AA in Yi nationality is lower than that in Han Yi nationality,the actual dose of Warfarin cannot be estimated accurately only by the polymorphisms of CYP2C9 and VKORC1 genes.

关 键 词：彝族 华法林 CYP2C9 VKORC1 

分 类 号：R969[医药卫生—药理学]