表皮生长因子5'非编码区rs4444903单核苷酸多态性与儿童肾母细胞瘤易感性及预后因素的研究

目的 研究表皮生长因子(epidermal growth factor,EGF)5'非编码区rs4444903单核苷酸多态性(SNP)与儿童肾母细胞瘤易感性及病理分期的关系.方法 采用病例对照研究,收集临床病理确诊的儿童肾母细胞瘤外周血96例,及正常同龄儿童外周血200例,应用聚合酶链反应-连接酶特异检测技术(PCR-LDR)分析两组儿童外周血DNA中EGF rs444490位点的多态性,比较不同基因型与前列腺癌易感性及病理分期的关系.结果 Logistic回归分析显示,儿童携带EGF rs4444903 GG和GG+ GA基因型能增加罹患肾母细胞瘤的风险(OR =2.45,95％CI=1.12～4.87,OR=1.25,95％ CI=1.08～ 2.34,P＜0.05),与患儿病理分期呈正相关(Ⅲ-Ⅴ期vs Ⅰ-Ⅱ期:OR =2.28,95％ CI=1.30 ～4.48,P＜0.01),并且GG/GA携带者其EGF血清表达亦增高(P＜0.05).结论 EGFrs444490位点多态性与肾母细胞瘤易感性及其预后相关,携带GG/GA基因型的肾母细胞瘤患儿预后较差.

Association of rs4444903 polymorphism in the 5'non-coding region of EGF gene and the susceptibility and prognosis of wilms tumor

Objectives To investigate the correlation between epidermal growth factor (EGF) gene rs4444903 polymorphism in the 5'non-coding region and genetic susceptibility and pathological stage to wilms tumor (WT) of childhood.Methods A case control experiment was performed,consisting of 96 cases with newly diagnosed and 200 cancer-free healthy controls.Then peripheral blood genome DNA was extracted.The polymorphism of EGF rs4444903 polymorphism was analyzed by polymerase chain reaction-ligase detection reaction (PCR-LDR) technique.The correlations between the susceptibility and pathological stage to WT and different genotypes were compared.Results Logistic regression analysis suggested that children carried GG or GA + GG genotype might increase WT susceptibility (OR =2.45,1.12 ～ 4.87,OR =1.25,1.08 ～ 2.34,P ＜ 0.05,respectively),and had a positive correlation in pathological stage (Ⅲ～Ⅴ stage vs.Ⅰ ～Ⅱ stage:OR =2.28,95％CI =1.30～4.48,P ＜0.01).Furthermore,the GG/GA carries had a higher EGF expression in serum than AA genotype.Conclusions EGF rs4444903 polymorphism has a susceptibility to WT,and might be a risk factor in the prognosis of WT.