Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Department of Oncology, The Affiliated Wuxi No.2 People's Hospital of Nanjing Medical University, Wuxi 214000, Jiangsu, China.
Biosci Rep. 2019 Oct 30;39(10). doi: 10.1042/BSR20192529.
Wilms tumor is one of the most common pediatric solid tumors. The pair-like homeobox 2b (PHOX2B) gene is an important transcription factor that regulates cellular proliferation and differentiation in early life. The association between PHOX2B single nucleotide polymorphisms (SNPs) and Wilms tumor risk has not been investigated. Therefore, we conducted a case-control study involving 145 Wilms tumor patients and 531 controls to explore the association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility. The association between the PHOX2B rs28647582 T>C polymorphism and Wilms tumor susceptibility was assessed by odds ratios (ORs) and 95% confidence intervals (CIs). Our results indicated that PHOX2B rs28647582 T>C polymorphism did not significantly alter Wilms tumor susceptibility. However, in the stratified analysis, we found that TC/CC genotypes significantly increased Wilms tumor risk among children older than 18 months (adjusted OR = 1.77, 95% CI = 1.07-2.95, P=0.027) and those with clinical stages III+IV (adjusted OR = 1.75, 95% CI = 1.09-2.82, P=0.022), when compared with those with TT genotype. Our study suggested that PHOX2B rs28647582 T>C was weakly associated with Wilms tumor susceptibility. Our conclusions need further validation with a larger sample size.
肾母细胞瘤是最常见的儿童实体瘤之一。双同源框 2b(PHOX2B)基因是一种重要的转录因子,调节生命早期细胞的增殖和分化。PHOX2B 单核苷酸多态性(SNP)与肾母细胞瘤风险之间的关联尚未得到研究。因此,我们进行了一项病例对照研究,共纳入 145 例肾母细胞瘤患者和 531 例对照,以探讨 PHOX2B rs28647582 T>C 多态性与肾母细胞瘤易感性之间的关系。通过比值比(ORs)和 95%置信区间(CIs)评估 PHOX2B rs28647582 T>C 多态性与肾母细胞瘤易感性之间的关系。我们的结果表明,PHOX2B rs28647582 T>C 多态性与肾母细胞瘤易感性无显著相关性。然而,在分层分析中,我们发现 TC/CC 基因型显著增加了 18 个月以上儿童(调整后的 OR=1.77,95%CI=1.07-2.95,P=0.027)和临床分期 III+IV 期(调整后的 OR=1.75,95%CI=1.09-2.82,P=0.022)患儿发生肾母细胞瘤的风险,与 TT 基因型相比。本研究表明,PHOX2B rs28647582 T>C 与肾母细胞瘤易感性弱相关。我们的结论需要进一步验证,以更大的样本量进行。