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This meta-analysis found that the PD-1.5 (rs2227981) gene polymorphism is associated with a significantly reduced risk of cancer. Other PD-1 polymorphisms showed no consistent association with cancer susceptibility.

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Area of Science:

  • Immunogenetics
  • Cancer Epidemiology
  • Genetic Susceptibility

Background:

  • Programmed cell death-1 (PD-1) is a key regulator of anti-tumor immune responses.
  • PD-1 gene polymorphisms are investigated for their role in cancer susceptibility.
  • Previous studies on PD-1 polymorphisms and cancer risk have yielded conflicting results.

Purpose of the Study:

  • To conduct a meta-analysis evaluating the association between PD-1 polymorphisms and cancer risk.
  • To resolve conflicting findings from individual epidemiological studies.
  • To identify specific PD-1 variants linked to cancer susceptibility.

Main Methods:

  • Systematic electronic searches for relevant epidemiological studies.
  • Inclusion of high-quality studies based on Newcastle-Ottawa Scale (NOS) assessment.
  • Meta-analysis of data from 12 studies involving 5,206 cancer cases and 5,174 controls.

Main Results:

  • The PD-1.5 (rs2227981) polymorphism was significantly associated with decreased cancer risk across overall, Asian, and population-based subgroups (TT vs. CC, TT vs. CT+CC, and T vs. C allele).
  • No significant associations were found for PD-1.9 (rs2227982) or PD-1 rs7421861 polymorphisms with cancer risk.
  • The PD-1.3 (rs11568821) polymorphism showed varied associations depending on the genetic model, with no overall significant link to cancer risk.

Conclusions:

  • The PD-1.5 (rs2227981) polymorphism is strongly associated with a reduced risk of developing cancer.
  • Further epidemiological studies are warranted to validate these findings.
  • This study provides evidence for the role of specific PD-1 genetic variations in cancer risk.