目的　探讨mTOR基因SNP位点(rs2295080)的多态性与中国中部地区儿童白血病以及白血病危险度的相关性。方法　采取病例对照研究方法，分别选取180例白血病患儿，其中急性淋巴细胞白血病(ALL)133例、急性粒细胞白血病(AML)47例，296例健康儿童(对照组)作为研究对象。利用PCR-RFLP方法测定SNP位点多态性分布，并进行统计分析。结果　ALL组、AML组以及对照组之间三种基因型分布差异有统计学意义(χ2=11.04，P=0.026)；但三组之间等位基因G的频率分布差异无统计学意义(χ2=5.44，P=0.066)。ALL组中GG基因型患病风险是对照组的3.180倍(OR=3.180，95%CI：1.416~7.143，P=0.004)；G等位基因是患ALL的危险因素(OR=1.456，95%CI：1.052~2.015)。AML组中GG基因型患病风险是对照组的3.204倍(OR=3.204，95%CI：1.109~9.253)；但G等位基因频率在AML组与对照相之间差异无统计学意义(OR=1.294，95%CI：0.792~2.115)。ALL患儿标危、中危和高危三组之间基因型分布差异无统计学意义(χ2=2.16，P=0.340)。结论　mTOR基因SNP位点(rs2295080)的多态性可能与ALL的易感性相关，G等位基因为风险因子。

Objective　To investigate the association of single nucleotide polymorphism (rs2295080) in mTOR gene with the susceptibility to acute leukemia (AL) in Chinese children. Methods　A case-control study was performed by recruitment of 180 children with AL and 296 healthy children as controls. The genotype of this SNP was detected using PCR-RFLP. The data were analyzed by SPSS19.0. Results　There was a significant difference in genotypes in three groups (ALL, AML and control) (P=0.026). And the SNP was associated with AL, with G allele being higher in AL group than that in controls (OR=1.413, 95%CI: 1.050-1.901, P=0.022). In ALL group, G allele was also higher than that in healthy group (OR=1.456, 95%CI: 1.052-2.015, P=0.023). However, no significant association was observed in AML patients (P=0.302). In addition, ALL patients with GG genotype were associated with disease severity compared with patients with TT or GT genotype (OR=2.044, 95%CI: 0.569-7.341). Conclusion　The rs2295080 was associated with ALL, with G allele being a risk factor.