BACKGROUND: Wilms tumor is among the most common pediatric malignant tumors. Although m METHODS: We examined the relationship between TRMT61B gene rs4563180 G >
C polymorphism (detected by TaqMan probe method) in 414 children with Wilms tumor and 1199 healthy controls. The relationship between the genotype of each sublayer and the risk of Wilms tumor was studied by stratified analysis. The GTEx database was used to analyze the influence of TRMT61B rs4563180 G >
C polymorphism on mRNA expression. RESULTS: The TRMT61B gene polymorphism significantly reduced the susceptibility to Wilms tumor (GC vs. GG: adjusted odds ratio [AOR] = 0.72, 95% confidence interval [CI] = 0.56-0.93, P = 0.012
GC/CC vs. GG: AOR = 0.76, 95% CI = 0.60-0.96, P = 0.021). GC/CC genotype had a protective effect in boys and children with stage III tumors compared with rs4563180 GG genotype. Additionally, the C allele was significantly associated with decreased mRNA expression of TRMT61B gene compared with rs4563180G allele in cultured fibroblasts (P = 3.3e - 80), EBV-transformed lymphocytes (P = 9.5e - 14), and whole blood (P = 6.0e - 12). CONCLUSIONS: Our results confirm that TRMT61B gene is associated with the development of Wilms tumors, but its underlying mechanism requires further exploration.