Polymorphisms in the <i>NSUN1</i> gene and neuroblastoma risk in Chinese children from Jiangsu province

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