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Comprehensive analysis of the effect of rs2295080 and rs2536 polymorphisms within the mTOR gene on cancer risk

Guang-Hui Qi1, Chun-Hui Wang2, Hong-Ge Zhang3

  • 1Department of Urology, The First Hospital of Zibo City, Zibo, Shandong 255000, China.

Bioscience Reports
|June 30, 2020
PubMed

Insights

The mTOR gene rs2295080 polymorphism may lower the risk of urinary and prostate cancers in Chinese individuals. More research is needed to confirm its role in leukemia and other cancers.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • The role of mTOR (mammalian target of rapamycin) gene polymorphisms, specifically rs2295080 and rs2536, in various cancers remains unclear.
  • Previous studies have yielded inconclusive results regarding the association between these polymorphisms and cancer risk.

Purpose of the Study:

  • To comprehensively assess the association between mTOR gene polymorphisms (rs2295080 and rs2536) and cancer risk.
  • To evaluate the potential impact of rs2295080 on mTOR gene expression.
  • To clarify the conflicting findings regarding these genetic variations and cancer susceptibility.

Main Methods:

  • Performed a pooled analysis of 18 high-quality studies from China.
  • Utilized False-Positive Report Probability (FPRP) and Trial Sequential Analysis (TSA) to validate findings.
  • Conducted Expression Quantitative Trait Loci (eQTL) analysis to investigate gene expression correlation.

Main Results:

  • Pooled analysis of rs2295080 indicated a decreased risk for urinary system tumors and specific prostate cancers (TG vs. TT, TG+GG vs. TT, G vs. T).
  • rs2295080 was associated with an increased risk of leukemia (G vs. T, GG vs. TT, GG vs. TT+TG genotypes), though further evidence is required.
  • eQTL analysis suggested a correlation between rs2295080 and mTOR expression in whole blood.
  • rs2536 showed a significant association in the 'population-based' control subgroup across multiple comparison models.

Conclusions:

  • The TG genotype of mTOR rs2295080 may reduce susceptibility to urinary system tumors and certain prostate cancers in Chinese populations.
  • Current evidence does not strongly support a role for rs2295080 in leukemia risk, necessitating more research.
  • Larger sample sizes are required to confirm the role of rs2536 in a broader range of cancers.
Keywords:
cancermTORpolymorphismrisk

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