中国人群STX4基因多态性对华法林应用剂量的影响

Effect of STX4 Polymorphism on Warfarin Dosage in Chinese Population

目的以中国北京地区使用华法林进行长期抗凝治疗的汉族人群作为研究对象,结合非遗传因素的影响,明确STX4基因位点的多态性与华法林用药剂量个体间差异的相关性。方法运用聚合酶链式反应(polymerase chain reaction,PCR)扩增-连接酶检测反应(ligase detection reaction,LDR)方法,对STX4单核苷酸多态性(single nucleotide polymorphism,SNP)位点进行基因分型检测。研究用国际标准化比值(INR)作为临床治疗监测指标,最后运用SPSS17.0软件对数据进行分析。结果 207例样品中,STX4基因突变率为93.96%,其中杂合子分型为10.14%,且达到遗传平衡。不同基因分型组间的华法林剂量有显著差异,所对应的INR值分布无显著差异。结论 STX4基因多态性对华法林稳定剂量有显著影响,测定基因位点可以为个体化治疗提供指导。

OBJECTIVE To clarify the relationship between STX4 gene polymorphism and warfarin dosage difference between individuals in Han population in Beijing who receive long-term warfarin as anticoagulant therapy.METHODS PCR amplification-ligase detection reaction（LDR） method was used to genotype the single nucleotide polymorphism（SNP） loci of STX4,and INR was use as the clinical indicator.SPSS17.0 software was utilized to analyze the data.RESULTS 207 Patients were included.STX4 gene mutation rate was 93.96% and heterozygous type was 10.14% with Hardy-Weinberg equilibrium balance.Warfarin dosage in different genotype groups were significantly different,without significant difference of INR values between groups.CONCLUSION There is a significant effect of STX4 polymorphism on stable dosage of warfrain,which may be one good indicator for warfarin individualization.