Luo Ming, Wang Yizhen, Yin Huimin, Zhou Chunlei, Lu Hongting, Zhou Haixia, He Shaohua, He Jing, Zhu Jinhong, Zhang Shouhua
Department of General Surgery, Jiangxi Provincial Children's Hospital, Nanchang 330006, Jiangxi, China.
Department of Pathology, Anhui Provincial Children's Hospital, Hefei 230051, Anhui, China.
J Cancer. 2025 Jan 1;16(2):479-485. doi: 10.7150/jca.102801. eCollection 2025.
Wilms tumor, also known as nephroblastoma, is the most common kidney cancer in children. The rs11614913 T>C polymorphism has been identified as a susceptibility locus in various adult cancers. However, it is unclear whether this polymorphism also increases the risk of pediatric cancer. In this study, we examined the genotypes of rs11614913 T>C in 416 pediatric patients with Wilms tumor and 936 age- and gender-matched healthy controls of Chinese Han ethnicity using the TaqMan technology. The association between rs11614913 T>C polymorphism and the susceptibility to Wilms tumor was analyzed by univariable and multivariable logistic regression analyses, and the odds ratio (OR) and 95% confidence interval (CI) were calculated. Overall analysis indicated that the rs11614913 T>C was associated with an increased risk of Wilms tumor in the homozygous (adjusted OR (AOR)=1.58, 95% CI=1.14-2.21, =0.007), additive (AOR=1.26, 95% CI=1.06-1.49, =0.007), dominant (AOR=1.33, 95% CI=1.02-1.74, =0.034), and recessive (AOR=1.38, 95% CI=1.05-1.81, =0.023) models. Stratification analysis further demonstrated that the association was dependent on age and tumor stages rather than gender. Furthermore, rs11614913 T>C was significantly associated with the disease risk only in children older than 18 months and those with III+IV stage tumors. The expression quantitative trait locus (eQTL) analysis showed that rs11614913 T>C was associated with decreased expression of HOXC-AS1 and increased expression of GPR84 and HOXC8. Our results provide evidence that rs11614913 T>C may confer genetic susceptibility to Wilms tumor. These findings warrant validation in larger cohorts and across different ethnicities.
肾母细胞瘤，也称为肾胚胎瘤，是儿童中最常见的肾癌。rs11614913 T>C多态性已被确定为多种成人癌症的易感位点。然而，尚不清楚这种多态性是否也会增加儿童癌症的风险。在本研究中，我们使用TaqMan技术检测了416例中国汉族肾母细胞瘤患儿和936例年龄及性别匹配的健康对照者的rs11614913 T>C基因型。通过单变量和多变量逻辑回归分析rs11614913 T>C多态性与肾母细胞瘤易感性之间的关联，并计算比值比（OR）和95%置信区间（CI）。总体分析表明，rs11614913 T>C在纯合子（校正OR（AOR）=1.58，95%CI=1.14-2.21，P=0.007）、加性（AOR=1.26，95%CI=1.06-1.49，P=0.007）、显性（AOR=1.33，95%CI=1.02-1.74，P=0.034）和隐性（AOR=1.38，95%CI=1.05-1.81，P=0.023）模型中与肾母细胞瘤风险增加相关。分层分析进一步表明，这种关联取决于年龄和肿瘤分期，而非性别。此外，rs11614913 T>C仅在18个月以上的儿童和III+IV期肿瘤患儿中与疾病风险显著相关。表达数量性状位点（eQTL）分析表明，rs11614913 T>C与HOXC-AS1表达降低以及GPR84和HOXC8表达增加相关。我们的结果提供了证据表明rs11614913 T>C可能赋予肾母细胞瘤遗传易感性。这些发现需要在更大的队列和不同种族中进行验证。
