NSUN7 gene polymorphisms increase the risk of neuroblastoma in Chinese children

Abstract

Abstract Purpose Neuroblastoma (NB) is the most common childhood solid tumor, exhibiting significant genetic variability. This study aims to assess the impact of NSUN7 gene polymorphisms (rs55690540 T > G, rs2437323 G > T, rs4861311 A > G, and rs11724316 T > C) on the susceptibility and prognosis of NB in a Chinese cohort. It focuses on elucidating the role of NSUN7 expression correlation with NB progression and outcomes, leveraging public databases and bioinformatics analysis. Methods A case-control study comprising 398 NB patients and 473 healthy controls was conducted, utilizing TaqMan assays for genotyping NSUN7 polymorphisms. Multivariate logistic regression determined the association between these polymorphisms and NB risk. The GTEx database was used to assess gene expression impact. Kaplan–Meier analysis and bioinformatics tools, including GSEA and KEGG pathway analysis, were employed to evaluate the prognostic implications of NSUN7 expression in datasets GSE49710 and GSE45547. Results Certain NSUN7 polymorphisms, particularly rs11724316 CC and rs2437323 TT genotypes, showed a significant association with increased NB susceptibility. Stratification analysis revealed age and stage-specific correlations. Elevated NSUN7 expression, correlated with poor prognosis in NB, was linked to significant metabolic shifts and involvement in key pathways like KRAS signaling, E2F targets, and G2M checkpoint. Conclusion NSUN7 polymorphisms emerge as potential biomarkers for NB susceptibility and prognosis. High NSUN7 expression is associated with adverse outcomes, highlighting its critical role in NB pathogenesis and as a promising target for therapeutic intervention. This study provides a foundation for future research in neuroblastoma genetics and treatment strategies.