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12个单核苷酸多态性位点与儿童急性淋巴细胞白血病易感性的关系 被引量:1

Correlation between 12 loci of single nucleotide polymorphisms and childhood acute lymphoblastic leukemia
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摘要 目的:鉴定国外全基因组关联分析(GWAS)报道的13个儿童急性淋巴细胞白血病(ALL)易感性单核苷酸多态性(SNPs)位点与中国人群的关系,为我国儿童ALL预测及诊治提供新策略。方法:采用微流体动态芯片(IFC),通过Fluidigm的JunoTM分析系统,对191例ALL患儿和191例健康志愿者的13个ALL易感性相关候选SNPs位点进行基因分型。对照组进行Hardy-Weinberg遗传平衡检验后采用χ2检验及logistic回归分析。结果:rs10849033位点不满足Hardy-Weinberg遗传平衡,将该位点剔除。病例组与对照组风险等位基因频率存在明显差异的位点有位于ARID5B基因的rs10821936(风险等位基因C频率为0.489,P<0.001,OR=1.692,95%CI=1.265~2.264)、rs10994982(风险等位基因A频率为0.598,P=0.016,OR=1.425,95%CI=1.068~1.901),位于ZNF230基因的rs7554607(风险等位基因A频率为0.721,P=0.002,OR=1.599,95%CI=1.179~2.169),位于IKZF1基因的rs11978267(风险等位基因G频率为0.191,P=0.001,OR=1.965,95%CI=1.301~2.968)、rs4132601(风险等位基因G频率为0.175,P=0.003,OR=1.871,95%CI=1.225~2.857)。结论:ARID5B基因的rs10821936与rs10994982、ZNF230基因的rs7554607位点多态性与我国儿童ALL发病相关,IKZF1基因的rs11978267及rs4132601为我国儿童ALL潜在易感性位点。 Objective:To identify genetic susceptibility genes and the loci of single nucleotide polymorphisms(SNPs)of acute lymphoblastic leukemia(ALL)in Chinese children,expecting to provide novel strategy for the diagnosis and treatment of ALL.Methods:Integrated fluidic circuits(IFC)was used,through the analysis of the JunoTM Fluidigm system,to examine 13 SNPs loci of the genetic susceptibility genes in 191 pediatric ALL patients and 191 controls.After Hardy-Weinberg equilibrium test,the data was analyzed under case-control study usingχ2 test and logistic regression.Results:The rs10849033 locus was eliminated because of inconformity with Hardy-Weinberg genetic balance.There were significant differences between ALL patients and controls in the risk allele frequencies of gene ARID5B rs10821936(C allele:0.489,P<0.001,OR=1.692,95%CI:1.265-2.264),rs10994982(A allele:0.598,P=0.016,OR=1.425,95%CI:1.068-1.901);gene ZNF230 rs2191566(A allele:0.721,P=0.002,OR=1.599,95%CI=1.179-2.169);gene IKZF1 rs11978267(G allele:0.191,P=0.001,OR=1.965,95%CI=1.301-2.968);rs4132601(G allele:0.175,P=0.003,OR=1.871,95%CI=1.225-2.857).Conclusion:We identified rs2191566 of gene ZNF230 and rs10821936,rs10994982 of gene ARID5B as the susceptibility loci of ALL in Chinese children.Rs4132601 and rs11978267 of gene IKZF1 were identified as the potential ALL susceptibility loci in Chinese children.
作者 莫一啸 王桢 王盼 沈树红 MO Yixiao;WANG Zhen;WANG Pan;SHEN Shuhong(Department of Hematology,the Second Affiliated Hospital&Yuying Children’s Hospital of Wenzhou Medical University,Wenzhou 325027,China;Department of Hematology and Oncology,Shanghai Children’s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)
出处 《温州医科大学学报》 CAS 2021年第1期1-7,共7页 Journal of Wenzhou Medical University
基金 国家自然科学基金资助项目(81270623)。
关键词 急性淋巴细胞白血病 遗传易感性 单核苷酸多态性 acute lymphoblastic leukemia genetic susceptibility single nucleotide polymorphism
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