Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility
Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility
复制标题
PHOX2B基因rs28647582 T>C多态性与肾母细胞瘤易感性的关系
DOI：
10.1042/bsr20192529
复制
发表时间：
2019-10-18
影响因子：
4
通讯作者：
He, Jing
中科院分区：
文献类型：
--
作者：
Lin, Ao;Fu, Wen;He, Jing
肾母细胞瘤是儿科最常见的实体瘤之一。类对同源异型盒2b(PHOX2B)基因是一种重要的转录因子，在生命早期调节细胞的增殖和分化。PHOX2B单核苷酸多态(SNPs)与Wilms肿瘤风险的相关性尚未被研究。因此，我们进行了一项病例对照研究，包括145名Wilms肿瘤患者和531名对照，以探讨PHOX2B rs28647582 T>；C多态与Wilms肿瘤易感性的关系。通过优势比(OR)和95%可信区间(CI)评估PHOX2B rs28647582 T>；C多态与Wilms肿瘤易感性的关系。我们的结果表明，PHOX2B rs28647582 T>；C多态并不显著改变肾母细胞瘤的易感性。但在分层分析中发现，与TT型相比，18个月以上(调整后OR=1.77，95%CI=1.07~2.95，P=0.027)和临床分期III+IV期(调整后OR=1.75，95%CI=1.09~2.82，P=0.022)的儿童发生肾母细胞瘤的危险性显著增加。我们的研究表明，PHOX2B rs28647582 T>；C与肾母细胞瘤的易感性关系不大。我们的结论还需要更大的样本量来进一步验证。
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.