我国汉族华法令抗凝治疗患者维生素K环氧化物还原酶复合体亚单位1基因多态性的研究

Study on the Genetic Polymorphism of VKORC1 in Chinese Han Treated by Warfarin Anticoagulant Therapy

目的探讨我国汉族口服华法令抗凝治疗患者维生素K环氧化物还原酶复合体亚单位1(VKORC1)-1639基因多态性的特点。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析方法检测184例口服华法令抗凝治疗患者VKORC1-1639基因的多态性。结果 184例口服华法令抗凝治疗患者VKORC1-1639基因AA、AG、GG型分别为152例(82.6%)、31例(16.9%)、1例(0.5%),等位基因G和A的频率分别为9.0%和91.0%。184例患者VKORC1-1639基因多态性Hardy-Weinberg平衡拟合度良好(χ2=0.19,P>0.05)。结论我国汉族口服华法令抗凝治疗患者中存在VKORC1-1639突变基因,其基因分布频率与欧洲等其他人群存在种族差异。使用华法令抗凝治疗时应检测患者的VKORC1-1639基因型,以便为临床个体化用药提供依据。

Objective To study the feature of warfarin anticoagulant therapy in patients with VKORC1-1639 genetic polymorphism in Chinese Han.Methods The VKORC1-1639 genetic polymorphism was analyzed in 184 patients treated by warfarin anticoagulant therapy by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFL）.Results The frequencies of the VKORC1-1639 AA,AG,GG genotypes in the patient group were 82.6%,16.9%,0.5% respectively,and allele frequencies were 91.0% for VKORC1-1639 A and 9.0% for G.VKORC1-1639 genetic polymorphism in 184 patients had excellent degree of Hardy-Weinberg balance and fitting（χ^2=0.19,P〈0.05）.Conclusion The VKORC1 mutant exists in patients treated by warfarin anticoagulant therapy in Chinese Han.There are significant differences in the allele frequencies of VKORC1-1639A/G in the Han population and the European population and other ethnic groups.In order to provide reference for individual administration of warfarin,VKORC1-1639 genotype should be analyzed in the process of warfarin anticoagulant therapy.