Work

ALKBH5 gene polymorphisms and Wilms tumour susceptibility in children from East China: a case–control study

Year: 2025

Type: article

Abstract: Background Wilms tumour is the most common paediatric renal malignancy. The RNA demethylase alkylation repair homologue protein 5 ( ALKBH5) , known for its role in reversing N6-methyladenosine modification, has been increasingly implicated in tumourigenesis. Its specific role in Wilms tumour, however, remains largely unexplored. We conducted a case–control study to investigate the association between ALKBH5 gene polymorphisms and susceptibility to Wilms tumour. Methods Our study included 416 patients and 936 cancer-free controls from East China. We genotyped two ALKBH5 single-nucleotide polymorphisms: rs1378602 G>A and rs8400 G>A. Results We found that the rs8400 AA genotype was significantly associated with an increased risk of Wilms tumour compared with GG/GA carriers (adjusted OR=1.39, 95% CI 1.04 to 1.85, p=0.025). Furthermore, individuals carrying two risk genotypes faced a significantly higher risk than those with zero or one risk genotype (adjusted OR=1.43, 95% CI 1.07 to 1.92, p=0.017). Stratified analysis revealed that this elevated risk was particularly pronounced in specific subgroups: children older than 18 months, females and those diagnosed with clinical stages I and II. Conclusion Our findings suggest that the ALKBH5 rs8400 G>A polymorphism is associated with increased susceptibility to Wilms tumour in the Eastern Chinese paediatric population.

Source: BMJ Paediatrics Open

DOI: 10.1136/bmjpo-2025-003628