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Polymorphisms in mTORC1 genes modulate risk of esophageal squamous cell carcinoma in eastern Chinese populations

Mei-Ling Zhu1, Hongping Yu, Ting-Yan Shi

  • 1Cancer Institute, Fudan University Shanghai Cancer Center, and Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer
|March 26, 2013
PubMed
Abstract

Insights

Genetic variations in mTORC1 genes, particularly mTOR rs1883965, are associated with an increased risk of esophageal squamous cell carcinoma (ESCC). Multiple genetic factors collectively elevate ESCC risk, suggesting a significant role for mTORC1 pathway in its development.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Mammalian target of rapamycin complex 1 (mTORC1) is a crucial regulator of cellular processes like gene transcription and autophagy.
  • No prior research has investigated the link between genetic variations in mTORC1 genes and esophageal squamous cell carcinoma (ESCC) risk.

Purpose of the Study:

  • To investigate the association between functional single nucleotide polymorphisms (SNPs) in mTORC1 pathway genes and the risk of developing ESCC.
  • To identify specific SNPs or combinations of SNPs that may contribute to ESCC susceptibility.

Main Methods:

  • A case-control study was conducted with 1126 ESCC patients and 1131 cancer-free controls.
  • Eight functional SNPs in key mTORC1 genes (mTOR, mLST8, RPTOR) were genotyped.
  • Statistical analyses, including single-locus, combined, and multidimensional reduction analyses, were performed to assess SNP associations with ESCC risk.

Main Results:

  • The mTOR rs1883965 A variant genotype showed a significantly altered risk for ESCC.
  • Individuals with two or more unfavorable genotypes across the studied SNPs had a higher risk of ESCC (OR=1.35).
  • A dose-dependent cumulative effect of unfavorable genotypes on ESCC risk was observed (ptrend=0.004), with mTOR rs1883965 identified as a key individual risk factor.

Conclusions:

  • Functional single nucleotide polymorphisms (SNPs) in mTORC1 genes may individually and collectively influence the risk of esophageal squamous cell carcinoma (ESCC).
  • These findings highlight the potential role of the mTORC1 pathway in ESCC pathogenesis.
  • Further research is recommended to validate these genetic associations and explore their clinical implications.

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