Fu Wen, Zhuo Zhenjian, Hua Rui-Xi, Fu Kai, Jia Wei, Zhu Jinhong, Zhang Jiao, Cheng Jiwen, Zhou Haixia, Xia Huimin, He Jing, Liu Guochang
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
School of Chinese Medicine, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, China.
Aging (Albany NY). 2019 Mar 12;11(5):1551-1563. doi: 10.18632/aging.101855.
Wilms tumor is a type of pediatric solid tumor that arises partly due to somatic and germline mutations. Single-nucleotide polymorphisms (SNPs) in the gene reportedly modify the risk for several types of human malignancies. We conducted a multicenter study to investigate whether gene variants predispose individuals to Wilms tumor. Four SNPs in were genotyped in 355 Wilms tumor cases and 1070 controls. The SNPs included rs12587 G>T, rs7973450 A>G and rs7312175 G>A in , and rs2273267 A>T in . Individuals harboring the rs12587 GT genotype were more likely to develop Wilms tumor than those carrying the GG genotype (adjusted odds ratio [OR]=1.30, 95% confidence interval [CI]=1.004-1.68, =0.046). However, the other three SNPs seemed not to influence the risk for Wilms tumor. Compared to individuals without a risk genotype, those harboring one to three risk genotypes had an adjusted OR of 1.28 for developing Wilms tumor (95% CI=1.002-1.64, =0.048). Stratification analysis revealed that rs12587 GT/TT was associated with Wilms tumor risk in children >18 months old (adjusted OR=1.39, 95% CI=1.02-1.89, =0.037). Our findings indicate that the rs12587 G>T polymorphism in is associated with increased Wilms tumor susceptibility.
肾母细胞瘤是一种儿童实体瘤，部分由体细胞和生殖系突变引起。据报道，该基因中的单核苷酸多态性（SNP）会改变几种人类恶性肿瘤的风险。我们进行了一项多中心研究，以调查该基因变异是否使个体易患肾母细胞瘤。对355例肾母细胞瘤病例和1070例对照进行了该基因中4个SNP的基因分型。这些SNP包括该基因中的rs12587 G>T、rs7973450 A>G和rs7312175 G>A，以及另一个基因中的rs2273267 A>T。携带rs12587 GT基因型的个体比携带GG基因型的个体更易患肾母细胞瘤（调整后的优势比[OR]=1.30，95%置信区间[CI]=1.004-1.68，P=0.046）。然而，其他三个SNP似乎不影响肾母细胞瘤的风险。与没有风险基因型的个体相比，携带一至三个该风险基因型的个体患肾母细胞瘤的调整后OR为1.28（95%CI=1.002-1.64，P=0.048）。分层分析显示，rs12587 GT/TT与18个月以上儿童的肾母细胞瘤风险相关（调整后的OR=1.39，95%CI=1.02-1.89，P=0.037）。我们的研究结果表明，该基因中的rs12587 G>T多态性与肾母细胞瘤易感性增加有关。
