基因多态性与儿童急性骨髓性白血病易感性关系

Correlation between genetic polymorphism and susceptibility to childhood acute lymphoblastic leukemia

目的探讨药物相关代谢基因多态性（GSTT1缺失/野生,GTSM1缺失/野生,GSTP1 I105V）与儿童急性骨髓性白血病（AML）的易感相关性。方法入选87例儿童AML患者和120名健康对照儿童,采用多重PCR方法检测GSTM1和GSTT1基因缺失或野生基因型,采用焦磷酸测序方法检测GSTP1基因多态性,统计分析不同基因分布频率。结果 207名研究对象GSTT1野生和缺失基因型频率分别为69.1%和27.5%,GSTM1野生和缺失基因型频率分别为30.9%和72.5%;GSTP1 AA、AG、GG基因型频率为58%、33.8%、8.2%。病例组携带GSTT1、GTSM1缺失基因型比例略高于对照组（OR=0.685、95%CI=0.378~1.241,OR=0.742、95%CI=0.396~1.390）,携带GSTP1 AA GG基因型患者略高于对照组,而AG基因型略低于对照组（OR=1.194、95%CI=0.645~2.150,OR=0.711、95%CI=0.237~1.820）,但差异均无统计学意义。结论 GSTT1、GSTM1、GSTP1等位基因多态性与儿童AML易感相关。

Objective To study the correlation between the polymorphism of glutathione S-transferase gene（ GSTT1 present / null,GSTM1 present / null,and GSTP1 I105V） with the susceptibility to childhood acute lymphoblastic leukemia（ ALL）. Methods Totally 87 ALL patients and 120 healthy controls were enrolled. GSTT1 and GSTM1 genetic polymorphism was detected with multiple PCR and GSTP1 I 105 V genetic polymorphism was detected with pyrosequencing.SPSS was employed in data analyses. Results Among the 207 samples from both the patients and the controls,the frequencies were 69. 1% and 27. 5% for GSTT1 wild and mutant genotype,30. 9% and 72. 5% for GSTM1 wild and mutant genotype,and 58%,33. 8% and 8. 2% for GSTP1 AA,AG and GG genotype. GSTT1 and GSTM1 null genotypes were not significantly associated with the risk of ALL（ odds ratio[OR] = 0. 685,95% confidence interval[95% CI]：0. 378- 1. 241 and OR = 0. 742,95% CI： 0. 396- 1. 390）; GSTP1 GG genotype was associated with an increased ALL risk（ OR = 1. 194,95% CI： 0. 645- 2. 150）,while AG genotype was associated with a decreased ALL risk（ OR = 0. 711,95% CI： 0. 237- 1. 820）. Conclusion The genetic polymorphisms of GSTT1 present / null,GSTM1 present / null,and GSTP1 I105 V are associated,but not significantly,with susceptibility to childhood acute lymphoblastic leukemia.