Association of MALAT1 gene polymorphisms with neuroblastoma susceptibility in children from Jiangsu Province

Neuroblastoma, a clinically heterogeneous pediatric tumor, has varying outcomes ranging from spontaneous regression to aggressive metastasis. Recent studies have emphasized non-coding RNAs, particularly long non-coding RNAs (lncRNAs), as crucial regulators of cancer epigenetics. MALAT1 is a dual oncogenic lncRNA with some therapeutic potential but has rarely been studied in neuroblastoma.

We genotyped three MALAT1 polymorphisms (rs591291 C > T, rs619586 A > G, and rs3200401 C > T) in 402 neuroblastoma patients and 473 controls via TaqMan. Further stratification analysis was conducted to evaluate the potential associations of rs591291 and rs619586 with neuroblastoma risk. Through the GTEx database, we also investigated the impact of MALAT1 gene polymorphisms on the expression of nearby genes and splicing variants. Finally, Kaplan‒Meier analysis conducted via the R2 platform demonstrated the correlation between gene expression and the prognosis of neuroblastoma patients.

We discovered that the MALAT1 gene rs619586 A > G polymorphism significantly reduced neuroblastoma risk, whereas rs3200401 C > T increased the risk of neuroblastoma. Stratification analysis revealed that these significant associations were more pronounced in specific subgroups. Moreover, MALAT1 rs619586 A > G and rs3200401 C > T are significantly associated with increased expression of another lncRNA, NEAT1. These findings indicate that reduced expression of the NEAT1 gene is linked to a greater risk and poorer prognosis for neuroblastomas.

MALAT1 rs619586 A > G and rs3200401 C > T significantly contribute to susceptibility to neuroblastoma, and further research is needed to investigate the underlying mechanisms involved.