广东地区汉族人群CYP2C9和VKORC1基因多态性分布研究  

Study on the distribution of CYP2C9 and VKORC1 gene polymorphisms among the Han population in Guangdong

作　　者：刘春林[1] 陈培松[2] 何小洪[2] 余学高 LIU Chun-lin;CHEN Pei-song;HE Xiao-hong(Department of Laboratory Medicine,The Second Hospital of Yunnan Province/The First Hospital of Yunnan University,Yunnan Kunming 650021)

机构地区：[1]云南省第二人民医院/云南大学第一医院检验科,云南昆明650021 [2]中山大学附属第一医院医学检验科,广东广州510080

出　　处：《医学检验与临床》2020年第8期31-36,共6页Medical Laboratory Science and Clinics

摘　　要：目的:探讨CYP2C9和VKORC1基因多态性在广东地区汉族人群中的分布情况,为华法林个体化用药提供循证医学依据。方法:应用PCR-芯片杂交法检测广东地区592例汉族CYP2C9和VKORC1基因,并对基因多态性进行分析。结果:592例受试者CYP2C9的基因型以*^1/*^1型为主,频率为86.66%,其次是*^1/*^3型和*^1/*^2型,频率分别为8.11%和4.39%,未检出*^2/*^2基因型。VKORC1基因以纯突变型(AA)最多见,频率为74.66%,杂合型(GA)和纯野生型(GG)频率分别为23.65%和1.69%。CYP2C9*^1/*^1/VKORC1-1639 AA基因组合频率最高,为86.66%。CYP2C9基因*^1/*^1型频率低于国内黑龙江和河南汉族,低于亚洲国家日本和韩国人群,但高于新疆维吾尔族以及欧洲国家英国、法国、俄罗斯和瑞典人群,*^1*^2和*^2*^3型频率均明显低于欧洲国家人群,以上差异均具有统计学意义(P<0.5)。VKORC1-1639基因AA型频率低于国内湖北和江苏汉族,以及日本人群,但高于新疆维吾尔族和哈萨克族,高于欧洲国家德国、英国、法国、俄罗斯和瑞典人群,以上差异均具有统计学意义(P<0.5)。结论:广东地区汉族人群CYP2C9和VKORC1存在多态性分布,以CYP2C9*^1/*^1/VKORC1-1639 AA基因组合为主,其分布与国内外其他人群均存在较大差异。Objective:To investigate the distribution of CYP2C9 and VKORC1 polymorphisms in the Han population in Guangdong,and to provide evidence-based medical evidence for warfarin individualized drug use.Methods:PCR-chip hybridization was used to detect CYP2C9 and VKORC1 genes in 592 cases of Han nationality in Guangdong,and gene polymorphism was analyzed.Results:The genotype of CYP2C9 in 592 subjects was*^1/*^1 with a frequency of 86.66%,followed by*^1/*^3 and*^1/*^2 with a frequency of 8.11%and 4.39%,respectively.No*^2/*^2 genotype was detected.The frequency of VKORC1 was 74.66%in pure mutant(AA),23.65%in heterozygous(GA)and 1.69%in pure wild-type(GG).The frequency of AA gene combination of CYP2C9*^1/*^1/VKORC1-1639 was the highest,86.66%.The frequency of CYP2C9*^1/*^1 was lower than that of the Domestic Han nationality in Heilongjiang and Henan,lower than that of the Asian population in Japan and South Korea,but higher than that of the Xinjiang Uygur and the European population in Britain,France,Russia and Sweden.The frequency of*^1*^2 and*^2*^3 was significantly lower than that of the European population,and the above differences were statistically significant(P<0.5).The frequency of VKORC1-1639 GENO type AA was lower than that of the Han nationality in Hubei and Jiangsu in China and the Japanese population,but higher than that of the Uygur and Kazak nationalities in Xinjiang,and higher than that of the population in Germany,Britain,France,Russia and Sweden in European countries,all of which were statistically significant(P<0.5).Conclusion:There is a polymorphic distribution of CYP2C9 and VKORC1 in The Han population in Guangdong,mainly in the CYP2C9*^1/*^1/VKORC1-1639 AA gene combination,which is significantly different from that in other populations at home and abroad.

关 键 词：CYP2C9 VKORC1 华法林 广东 汉族 

分 类 号：R96[医药卫生—药理学]