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Background <p>Neuroblastoma, the most common extracranial solid tumor in children, demonstrates heterogeneous genetic susceptibility. Long noncoding RNAs (lncRNAs) are emerging cancer regulators. LincRNA&#xa0;<i>TDRG1</i> is implicated in carcinogenesis. However, the potential impact of its functional variant rs8506 C &gt; T on neuroblastoma susceptibility has not been assessed previously.</p> Methods <p>This case–control study enrolled 402 pathologically confirmed neuroblastoma patients and 473 age- and sex-matched controls from Jiangsu Province, China. TaqMan assays with rigorous quality control were used for genotyping. Genetic associations were evaluated using five genetic models (homozygous, heterozygous, dominant, recessive, and additive) via unconditional logistic regression. Stratified analyses by age (≤ 18&#xa0;months vs. &gt; 18&#xa0;months), sex (male vs. female), tumor site (adrenal gland, retroperitoneal, or mediastinum), and clinical stage (stages I + II + 4&#xa0;s vs. stages III + IV) were performed to evaluate the subgroup-specific effects of rs8506 C &gt; T. In silico expression quantitative trait locus (eQTL) analysis was performed using genotype-tissue expression (GTEx) Project data, which encompasses a wide array of human tissues and cell types, such as&#xa0;the adrenal gland&#xa0;and neural-related tissues.</p> Results <p>Controls were in Hardy–Weinberg equilibrium (<i>P</i> = 0.712). The rs8506 CT genotype demonstrated a significant protective effect against neuroblastoma in the heterozygous model [adjusted odds ratio (OR) = 0.71, 95% confidence interval (CI) 0.52–0.95, <i>P</i> = 0.021]. No associations were observed in the other genetic models. Stratified analyses revealed consistent but nonsignificant protection across subgroups. GTEx revealed functional relevance: esophageal mucosa CT carriers presented higher <i>TDRG1</i> (host gene) expression than CC homozygotes did (<i>P</i> &lt; 0.001).</p> Conclusions <p>This study implicates the lincRNA&#xa0;<i>TDRG1</i> rs8506 CT genotype as a novel protective factor against neuroblastoma in Eastern Chinese children, potentially through <i>TDRG1</i> dysregulation. The heterozygous-specific associations indicate the relevance of genetic models in lncRNA studies. Our findings demonstrate the functional significance of rs8506 through its tissue-specific regulatory effects on lincRNA&#xa0;<i>TDRG1</i> expression.</p>

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Association between the lincRNA–TDRG1 rs8506 C > T polymorphism and neuroblastoma risk in children from Jiangsu Province

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  • 发表日期：

    2026年6月25日

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  • Siqi Dong,
  • Jinhong Zhu,
  • Chunlei Zhou,
  • Wenli Zhang,
  • Jiabin Liu,
  • Jiaming Chang,
  • Xinxin Zhang,
  • Jing He,
  • Peng Yi

摘要

Background

Neuroblastoma, the most common extracranial solid tumor in children, demonstrates heterogeneous genetic susceptibility. Long noncoding RNAs (lncRNAs) are emerging cancer regulators. LincRNA TDRG1 is implicated in carcinogenesis. However, the potential impact of its functional variant rs8506 C > T on neuroblastoma susceptibility has not been assessed previously.

Methods

This case–control study enrolled 402 pathologically confirmed neuroblastoma patients and 473 age- and sex-matched controls from Jiangsu Province, China. TaqMan assays with rigorous quality control were used for genotyping. Genetic associations were evaluated using five genetic models (homozygous, heterozygous, dominant, recessive, and additive) via unconditional logistic regression. Stratified analyses by age (≤ 18 months vs. > 18 months), sex (male vs. female), tumor site (adrenal gland, retroperitoneal, or mediastinum), and clinical stage (stages I + II + 4 s vs. stages III + IV) were performed to evaluate the subgroup-specific effects of rs8506 C > T. In silico expression quantitative trait locus (eQTL) analysis was performed using genotype-tissue expression (GTEx) Project data, which encompasses a wide array of human tissues and cell types, such as the adrenal gland and neural-related tissues.

Results

Controls were in Hardy–Weinberg equilibrium (P = 0.712). The rs8506 CT genotype demonstrated a significant protective effect against neuroblastoma in the heterozygous model [adjusted odds ratio (OR) = 0.71, 95% confidence interval (CI) 0.52–0.95, P = 0.021]. No associations were observed in the other genetic models. Stratified analyses revealed consistent but nonsignificant protection across subgroups. GTEx revealed functional relevance: esophageal mucosa CT carriers presented higher TDRG1 (host gene) expression than CC homozygotes did (P < 0.001).

Conclusions

This study implicates the lincRNA TDRG1 rs8506 CT genotype as a novel protective factor against neuroblastoma in Eastern Chinese children, potentially through TDRG1 dysregulation. The heterozygous-specific associations indicate the relevance of genetic models in lncRNA studies. Our findings demonstrate the functional significance of rs8506 through its tissue-specific regulatory effects on lincRNA TDRG1 expression.