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Background <p>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. <i>MALAT1</i> is a dual oncogenic lncRNA with some therapeutic potential but has rarely been studied in neuroblastoma.</p> Methods <p>We genotyped three <i>MALAT1</i> polymorphisms (rs591291 C &gt; T, rs619586 A &gt; G, and rs3200401 C &gt; 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 <i>MALAT1</i> 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.</p> Results <p>We discovered that the <i>MALAT1</i> gene rs619586 A &gt; G polymorphism significantly reduced neuroblastoma risk, whereas rs3200401 C &gt; T increased the risk of neuroblastoma. Stratification analysis revealed that these significant associations were more pronounced in specific subgroups. Moreover, <i>MALAT1</i> rs619586 A &gt; G and rs3200401 C &gt; T are significantly associated with increased expression of another lncRNA, <i>NEAT1</i>. These findings indicate that reduced expression of the <i>NEAT1</i> gene is linked to a greater risk and poorer prognosis for neuroblastomas.</p> Conclusions <p><i>MALAT1</i> rs619586 A &gt; G and rs3200401 C &gt; T significantly contribute to susceptibility to neuroblastoma, and further research is needed to investigate the underlying mechanisms involved.</p>

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

  • 期刊论文

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  • 发表日期：

    2025年12月12日

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  • Yong Lian,
  • Lili He,
  • Siqi Dong,
  • Mengjia Li,
  • Wenli Zhang,
  • Mengzhen Zhang,
  • Xinxin Zhang,
  • Chunlei Zhou,
  • Jing He

摘要

Background

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.

Methods

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.

Results

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.

Conclusions

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.