# The NSUN5 gene rs1880948 A>G polymorphism and neuroblastoma risk in Chinese children

**Authors:** Zijie Ye, Huijuan Zeng, Manna Zheng, Chao Hu, Jing Pan, Jiliang Yang, Tianbao Tan, Chunlei Zhou, Jing He, Yan Zou, Tianyou Yang

PMC · DOI: 10.3389/fonc.2025.1655312 · 2025-12-19

## TL;DR

This study investigates the link between a specific NSUN5 gene variant and neuroblastoma risk in Chinese children but finds no significant association.

## Contribution

The study explores the potential role of NSUN5 gene polymorphism rs1880948 in neuroblastoma susceptibility in a Chinese population.

## Key findings

- The NSUN5 rs1880948 A>G polymorphism was not significantly associated with neuroblastoma risk.
- Further research with larger samples and functional polymorphisms is needed to confirm these findings.

## Abstract

Neuroblastoma (NB) is the most common extracranial solid tumor in children. The 5-methylcytosine (m5C) modification gene NSUN5 polymorphisms may serve as promising molecular markers for identifying populations susceptible to NB.

TaqMan probes were used to genotype NSUN5 single nucleotide polymorphisms (SNPs) in 402 NB patients and 473 healthy controls. A logistic regression model was applied to calculate the odds ratio (OR) and 95% confidence interval (CI) to evaluate the association between genotype polymorphisms and NB susceptibility. The analysis was further stratified by age, gender, tumor origin site, and clinical stage.

In summary, our study indicates that the selected NSUN5 rs1880948 A>G 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.

## Linked entities

- **Genes:** NSUN5 (NOP2/Sun RNA methyltransferase 5) [NCBI Gene 55695]
- **Diseases:** neuroblastoma (MONDO:0005072)

## Full-text entities

- **Genes:** LIN28B (lin-28 RNA binding posttranscriptional regulator B) [NCBI Gene 389421] {aka CSDD2}, NOP2 (NOP2 nucleolar protein) [NCBI Gene 4839] {aka NOL1, NOP120, NSUN1, p120}, SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) [NCBI Gene 6597] {aka BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, LMO1 (LIM domain only 1) [NCBI Gene 4004] {aka RBTN1, RHOM1, TTG1}, ALK (ALK receptor tyrosine kinase) [NCBI Gene 238] {aka ALK1, CD246, NBLST3}, TERT (telomerase reverse transcriptase) [NCBI Gene 7015] {aka CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1}, MYCN (MYCN proto-oncogene, bHLH transcription factor) [NCBI Gene 4613] {aka FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc}, CTNNB1 (catenin beta 1) [NCBI Gene 1499] {aka CTNNB, EVR7, MRD19, NEDSDV, armadillo}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, AXIN2 (axin 2) [NCBI Gene 8313] {aka AXIL, ODCRCS}, CASC15 (cancer susceptibility 15) [NCBI Gene 401237] {aka CANT, LINC00340, lnc-SOX4-1}, BARD1 (BRCA1 associated RING domain 1) [NCBI Gene 580], CHEK2 (checkpoint kinase 2) [NCBI Gene 11200] {aka CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53}, ZBED3 (zinc finger BED-type containing 3) [NCBI Gene 84327], NSUN5 (NOP2/Sun RNA methyltransferase 5) [NCBI Gene 55695] {aka NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120}, TRDMT1 (tRNA aspartic acid methyltransferase 1) [NCBI Gene 1787] {aka DMNT2, DNMT2, MHSAIIP, PUMET, RNMT1}
- **Diseases:** prostate cancer (MESH:D011471), colorectal cancer (MESH:D015179), tumorigenesis (MESH:D063646), gynecological tumor (MESH:D005833), solid (MESH:D018250), glioblastoma (MESH:D005909), renal cancer (MESH:D007680), head and neck squamous cell carcinoma (MESH:D000077195), NB (MESH:D009447), cancerous (MESH:D009369), HCC (MESH:D006528), lung cancer (MESH:D008175), leukemia (MESH:D007938), bladder cancer (MESH:D001749), gastric cancer (MESH:D013274)
- **Chemicals:** 5-methylcytosine (MESH:D044503), m6A (MESH:C005955), S-adenosylmethionine (MESH:D012436), m5C (-), cytosine (MESH:D003596)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** A>G, A>G

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Source: https://tomesphere.com/paper/PMC12797076