血液肿瘤疾病专栏

mTOR 基因多态性与儿童急性白血病的相关性分析

  • 熊昊 ,
  • 赵培伟 ,
  • 乐鑫 ,
  • 李晖 ,
  • 何学莲 ,
  • 李建新
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  • 武汉市儿童医院( 湖北武汉 430016)

收稿日期: 2015-05-15

  网络出版日期: 2015-05-15

基金资助

武汉市卫计委临床医学项目(No.WX14A06)

Analysis of polymorphism of mTOR gene in children with leukemia 

  • XIONG Hao ,
  • ZHAO Peiwei ,
  • YUE Xin ,
  • LI Hui ,
  • HE Xuelian ,
  • LI Jianxin
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  • Wuhan Children’s Hospital, Wuhan 430016, Hubei, China

Received date: 2015-05-15

  Online published: 2015-05-15

摘要

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。

本文引用格式

熊昊 , 赵培伟 , 乐鑫 , 李晖 , 何学莲 , 李建新 . mTOR 基因多态性与儿童急性白血病的相关性分析[J]. 临床儿科杂志, 2015 , 33(5) : 423 . DOI: 10.3969 j.issn.1000-3606.2015.05.006

Abstract

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.
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