华法林药物遗传学基因CYP2C9和VKORC1单核苷酸多态性在广东汉族人群的分布研究

目的探讨细胞色素P450(cytochrome P450, CYP450)家族中CYP2C9的单核苷酸多态性(single nucleotide polymorphisms, SNP)位点rs1057910和rs1799853以及维生素K环氧化物还原酶复合物亚基1(vitamin K epoxide reductase complex subunit 1, VKORC1)的rs9923231 SNP位点在广东汉族的分布,为华法林(warfarin)个体化用药(personalized medicine)提供循证医学依据.方法利用Sequenom MassArray? iPLEX GOLD系统对215例广东地区人群的rs1057910,rs1799853和rs9923231三个位点进行基因分型,并分析各基因型分布频率.结果 rs1799853和rs9923231在广东汉族中无多态性分布,分别只有CC基因型和CT基因型.rs1057910在广东汉族中有两种基因型AA和AC,分布频率分别为0.921和0.079;等位基因A的频率为0.9605,C的频率为0.0395.结论在本研究中由于rs1799853和rs9923231在广东汉族中无多态性分布,基于本研究数据建议广东汉族华法林药物的检测位点应以rs1057910为主.

The study of single nucleotide polymorphisms distribution of CYP2C9 and VKORC1 associated with pharmacogenetics of warfarin in Guangdong Han Chinese

Objective To determined the frequencies of rs1799853, rs1057910 in CYP2C9 and rs9923231 in VKORC1, two warfarin related genes, in Guangdong Han Chinese population. Methods By Sequenom MassArray iPLEX GOLD System, rs1799853, rs1057910 and rs9923231 were genotyped in 215 individuals of Guangdong Han Chinese. The data were analyzed with SPSS13.0 to obtain the genotype frequencies and the allele frequencies. Results No polymorphism of rs1799853 and rs9923231 were found in the present population. Only genotype CC in rs1799853 and CT in rs9923231 was detected. There were two genotypes in rs1057910, AA and AC. The frequency of AA was 0.921 and AC was 0.079. The frequency of allele A was 0.9605 and C was 0.0395. Conclusion Our study recommends that the warfarin SNP test could mainly depend on rs1057910 in Guangdong Han Chinese owing to that there were no polymorphism distribution of in rs1799853 and rs9923231 in this population.