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Associations of Genetic Polymorphisms of mTOR rs2295080 T/G and rs1883965 G/A with Susceptibility of Urinary System

Zhichao Min1, Yuanyuan Mi2, Zhiwei Lv3

  • 1Department of Urology, The First People's Hospital of Hangzhou Lin'an District, Hangzhou 310000, China.

Disease Markers
|January 27, 2022
PubMed
Abstract

Insights

Genetic variations in the mammalian target of rapamycin (mTOR) pathway, specifically the rs2295080 T/G polymorphism, are linked to increased cancer risk, particularly for urinary system cancers. This finding aids in understanding cancer susceptibility and progression.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Genetic polymorphisms in the mammalian target of rapamycin (mTOR) signaling pathway can affect cancer susceptibility.
  • Previous studies on mTOR gene variants rs2295080 T/G and rs1883965 G/A and cancer risk have yielded inconsistent results.

Purpose of the Study:

  • To comprehensively investigate the association between mTOR gene polymorphisms and cancer susceptibility.
  • To evaluate the impact of specific mTOR variants (rs2295080 T/G and rs1883965 G/A) on cancer risk.

Main Methods:

  • A pooled analysis of 22 case-control studies (14,747 cancer patients, 16,399 controls).
  • Statistical assessment using odds ratios (ORs) and 95% confidence intervals (CIs).
  • In silico tools, immunohistochemical staining (IHS), and Gene Set Enrichment Analysis (GSEA) to evaluate mTOR expression and pathway enrichment.

Main Results:

  • The rs2295080 T/G polymorphism was significantly associated with overall cancer risk (e.g., G-allele vs. T-allele: OR=0.89, P=0.023), particularly for urinary system, breast, and blood cancers.
  • The rs1883965 G/A variation showed an association with digestive cancer susceptibility.
  • IHS revealed mTOR upregulation in prostate and bladder cancers, with GSEA indicating enrichment of insulin and mTOR signaling pathways in high mTOR expression groups.

Conclusions:

  • The mTOR rs2295080 T/G polymorphism may contribute to urinary cancer susceptibility.
  • mTOR expression levels are positively correlated with tumor malignancy in prostate cancer, suggesting its role in disease progression.

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