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<p>Although papillary thyroid cancer (PTC) genetic research has advanced from identifying driver genes to investigating susceptibility loci and gene-environment interactions, data in Chinese populations remain limited. A case-control study was conducted, enrolling 75 patients with PTC and 271 patients with benign thyroid nodules. After testing for Hardy-Weinberg equilibrium, the associations of the single nucleotide polymorphism (SNP) at the rs965513 locus with genetic susceptibility to PTC, risk of <i>BRAF</i><sup><i>V600E</i></sup> mutation, and clinical parameters were analyzed using chi-square tests and multivariate logistic regression under multiple genetic models. Multi-genetic model analysis revealed that individuals carrying the A allele had a significantly increased risk of PTC compared with those with the GG genotype (aOR = 2.684, 95% CI: 1.395–5.164, <i>P</i> = 0.003). When stratified by <i>BRAF</i><sup><i>V600E</i></sup> mutation status, the A allele was also associated with an increased risk of harboring the <i>BRAF</i><sup><i>V600E</i></sup> mutation (aOR = 2.574, 95% CI: 1.202–5.512, <i>P</i> = 0.015). Additionally, the GG genotype was significantly associated with elevated thyroid-stimulating hormone (TSH) levels, whereas TSH levels were lower in A allele carriers. In summary, the A allele significantly elevates the risk of both PTC and <i>BRAF</i><sup><i>V600E</i></sup> mutation, whereas the G allele acts protectively. The risk-conferring A allele demonstrated an inverse association with serum TSH levels.</p>

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The FOXE1 rs965513 polymorphism: a pleiotropic risk locus associated with thyroid function, BRAFV600E mutation, and susceptibility to papillary thyroid cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月17日

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  • Wenran Zhang,
  • Yu Gao,
  • Simei Zeng,
  • Jingmin Li,
  • Shuhua Wang,
  • Yaming Huang,
  • Jiaqing Dou

摘要

Although papillary thyroid cancer (PTC) genetic research has advanced from identifying driver genes to investigating susceptibility loci and gene-environment interactions, data in Chinese populations remain limited. A case-control study was conducted, enrolling 75 patients with PTC and 271 patients with benign thyroid nodules. After testing for Hardy-Weinberg equilibrium, the associations of the single nucleotide polymorphism (SNP) at the rs965513 locus with genetic susceptibility to PTC, risk of BRAFV600E mutation, and clinical parameters were analyzed using chi-square tests and multivariate logistic regression under multiple genetic models. Multi-genetic model analysis revealed that individuals carrying the A allele had a significantly increased risk of PTC compared with those with the GG genotype (aOR = 2.684, 95% CI: 1.395–5.164, P = 0.003). When stratified by BRAFV600E mutation status, the A allele was also associated with an increased risk of harboring the BRAFV600E mutation (aOR = 2.574, 95% CI: 1.202–5.512, P = 0.015). Additionally, the GG genotype was significantly associated with elevated thyroid-stimulating hormone (TSH) levels, whereas TSH levels were lower in A allele carriers. In summary, the A allele significantly elevates the risk of both PTC and BRAFV600E mutation, whereas the G allele acts protectively. The risk-conferring A allele demonstrated an inverse association with serum TSH levels.