mTOR基因多态性与儿童急性白血病的相关性分析

Analysis of polymorphism of mTOR gene in children with leukemia

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（χ^2=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（χ^2=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（χ^2=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 m TOR 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.