DCK基因多态性与阿糖胞苷治疗急性髓系白血病疗效的关系

Correlation between single nucleotide polymorphisms of DCK and outcomes of acute myeloid leukemia treated by cytarabine

目的研究脱氧胞苷激酶（DCK）的单核苷酸多态性（SNP）及其对阿糖胞苷（Ara-C）治疗急性髓系白血病（AML）疗效的影响。方法采用高温连接酶检测反应技术,检测126例接受Ara-C治疗的AML患者（AML组）和100名健康人（正常对照组）DCK基因7个SNP位点（SNP1~7）的基因型和等位基因分布频率,比较DCK不同基因型分布AML组患者的Ara-C治疗效果。结果 DCK基因SNP1（rs2306744）等位基因和SNP2（rs12648166）基因型分布频率,在正常对照组与AML组和Ara-C治疗无效组（n=35）之间比较,差异均有统计学意义（P〈0.05）。在AML组,SNP1的CC型基因型和SNP2的多态性基因型（AG＋GG型）以及SNP3（rs4694362）的野生型基因型,对Ara-C治疗表现出较好的临床反应。结论 DCK基因的SNP能作为潜在的Ara-C治疗AML患者预后的分子标志之一。

Objective To explore the relationship between single nucleotide polymorphisms（SNPs） of deoxycytidine kinase（DCK） and outcomes of acute myeloid leukemia（AML） treated by cytarabine（Ara-C）.MethodsLigase detection reaction technique was employed to detect the genotype of 7 SNPs（SNP1-SNP7） from 126 patients with AML treated by Ara-C（AML group） and 100 healthy people（normal control group）,and the genotype distribution and outcomes of patients with AML treated by Ara-C were analysed.ResultsThere were significant differences in the allele distribution of SNP1（rs2306744） and genotype distribution of SNP2（rs12648166） of DCK between normal control group and AML group and between normal control group and Ara-C ineffective group（n=35）（P0.05）.In AML group,the CC genotype of SNP1,polymorphism genotype（AG＋GG）of SNP2 and wild type genotype of SNP3（rs4694362） displayed a favorable response to chemotherapy.ConclusionSNPs of DCK gene may be one of the molecular markers to predict the outcomes of patients with AML treated by Ara-C.