Chang Jiaming, Zhou Chunlei, Jia Wei, Zhou Haixia, Yang Tianyou, Zhang Zhuorong, Wu Haiyan, Zou Yan, He Jing
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, Guangdong, China.
Department of Pathology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China.
J Cancer. 2025 Jan 1;16(2):622-628. doi: 10.7150/jca.103097. eCollection 2025.
Neuroblastoma is the most prevalent extracranial solid tumor among children and exhibits remarkable heterogeneity. The methylation of cytosine to form 5-methylcytosine (m5C) is the primary type of modification found in DNA and RNA. The NOL1/NOP2/sun (NSUN) family, specifically NSUN1, is responsible for the methylation process and has been shown to play a key role in cell differentiation and cancer development. Nevertheless, the impact of gene polymorphisms on neuroblastoma risk remains uncertain. Two selected gene polymorphisms (rs11834074 G>A and rs3764909 C>A) were genotyped via the TaqMan method in a study population consisting of 402 neuroblastoma patients and 473 cancer-free controls. The associations between two selected polymorphisms and neuroblastoma risk were evaluated using odds ratios (ORs) and 95% confidence intervals (CIs). Neither the overall analysis nor the stratification analysis revealed a significant correlation between these two polymorphisms and the risk of neuroblastoma (rs11834074 G>A, AA vs. GG: adjusted OR=0.99, 95% CI=0.58-1.67, =0.964; GA/AA vs. GG: adjusted OR=0.91, 95% CI=0.70-1.19, =0.478; AA vs. GG/GA: adjusted OR=1.04, 95% CI=0.63-1.73, =0.876; while for the rs3764909 C>A polymorphism, AA vs. CC: adjusted OR=1.03, 95% CI=0.66-1.62, =0.901; CA/AA vs. CC: adjusted OR=0.95, 95% CI=0.73-1.24, =0.710; AA vs. CC/CA: adjusted OR=1.07, 95% CI=0.70-1.64, =0.767). Collectively, these findings indicate that the two selected polymorphisms may not be associated with neuroblastoma susceptibility. However, further studies with larger sample sizes and additional potentially functional polymorphisms are needed to validate these results.
神经母细胞瘤是儿童中最常见的颅外实体瘤，具有显著的异质性。胞嘧啶甲基化形成5-甲基胞嘧啶（m5C）是DNA和RNA中发现的主要修饰类型。NOL1/NOP2/sun（NSUN）家族，特别是NSUN1，负责甲基化过程，并已被证明在细胞分化和癌症发展中起关键作用。然而，基因多态性对神经母细胞瘤风险的影响仍不确定。在一项由402名神经母细胞瘤患者和473名无癌对照组成的研究人群中，通过TaqMan方法对两个选定的基因多态性（rs11834074 G>A和rs3764909 C>A）进行基因分型。使用优势比（OR）和95%置信区间（CI）评估两个选定多态性与神经母细胞瘤风险之间的关联。总体分析和分层分析均未显示这两个多态性与神经母细胞瘤风险之间存在显著相关性（rs11834074 G>A，AA与GG相比：调整后的OR=0.99，95%CI=0.58-1.67，P=0.964；GA/AA与GG相比：调整后的OR=0.91，95%CI=0.70-1.19，P=0.478；AA与GG/GA相比：调整后的OR=1.04，95%CI=0.63-1.73，P=0.876；而对于rs3764909 C>A多态性，AA与CC相比：调整后的OR=1.03，95%CI=0.66-1.62，P=0.901；CA/AA与CC相比：调整后的OR=0.95，95%CI=0.73-1.24，P=0.710；AA与CC/CA相比：调整后的OR=1.07，95%CI=0.70-1.64，P=0.767）。总体而言，这些发现表明这两个选定的多态性可能与神经母细胞瘤易感性无关。然而，需要进一步进行更大样本量和更多潜在功能多态性的研究来验证这些结果。
