Abstract
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 NSUN1 gene polymorphisms on neuroblastoma risk remains uncertain. Two selected NSUN1 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, P=0.964; GA/AA vs. GG: adjusted OR=0.91, 95% CI=0.70-1.19, P=0.478; AA vs. GG/GA: adjusted OR=1.04, 95% CI=0.63-1.73, P=0.876; while for the rs3764909 C>A polymorphism, AA vs. CC: adjusted OR=1.03, 95% CI=0.66-1.62, P=0.901; CA/AA vs. CC: adjusted OR=0.95, 95% CI=0.73-1.24, P=0.710; AA vs. CC/CA: adjusted OR=1.07, 95% CI=0.70-1.64, P=0.767). Collectively, these findings indicate that the two selected NSUN1 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.