Associations of NEFL gene polymorphisms with neuroblastoma risk in Chinese children from Jiangsu Province.

Background: Neuroblastoma is the predominant extracranial solid tumor occurring in children, and genetic factors like genetic polymorphism play a crucial role in its etiology. In this study, we investigated the associations between three NEFL polymorphisms (rs11994014 G>A, rs2979704 T>C, and rs1059111 A>T) and neuroblastoma susceptibility in a cohort of 402 neuroblastoma patients and 473 controls from Jiangsu Province.

Methods: Genotyping was determined using the TaqMan method. Genotype distributions between cases and controls were assessed via both univariate and multivariate logistic regression models to assess the associations between NEFL polymorphisms and neuroblastoma risk. Stratified analyses were performed based on age, sex, clinical stage, and site of origin to explore potential effect modifications and subgroup-specific associations.

Results: In the overall analysis, no significant associations were found between any of the three NEFL polymorphisms and neuroblastoma risk. When subjects were grouped on the basis of the number of risk genotypes, no significant alteration in susceptibility was observed in children carrying three risk genotypes compared with controls carrying fewer risk genotypes. Stratified analyses based on age, sex, clinical stage, and site of origin also revealed no significant results.

Conclusions: Our findings suggest that NEFL polymorphisms do not significantly modify neuroblastoma susceptibility in this population, suggesting that the previously reported neuroblastoma susceptibility loci in NEFL in Caucasians may not be consistent across different populations. Further research, including larger, more diverse cohorts, is necessary to clarify the potential role of NEFL and other genetic factors in neuroblastoma etiology.