Association of immune checkpoint-related polymorphisms in PD-1, PD-L1, and CTLA-4 genes with susceptibility to genitourinary cancer: a meta-analysis.
Chih-Heng Chen, Su-Wei Hu, Chia-Chang Wu et al.
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In 30 seconds
This meta-analysis pooled evidence from 16 case-control studies examining six single-nucleotide polymorphisms in PD-1, PD-L1, and CTLA-4 genes and susceptibility to genitourinary cancers, including urothelial, renal, and prostate cancers. PD-L1 rs4143815 was associated with lower urothelial cancer risk in Asian populations under the dominant model (CC + CG vs. GG: OR = 0.34, 95% CI = 0.14-0.87). CTLA-4 rs5742909 was associated with increased genitourinary cancer risk overall and increased urothelial cancer risk in Asian populations; the other examined variants showed no significant associations.
Key findings
- PD-L1 rs4143815 was associated with lower urothelial cancer risk in Asians (CC + CG vs. GG: OR = 0.34, 95% CI = 0.14-0.87).
- CTLA-4 rs5742909 was associated with increased genitourinary cancer risk in the dominant model (OR = 1.41, 95% CI = 1.11-1.80) and allele model (OR = 1.34, 95% CI = 1.05-1.72).
- Among Asians, CTLA-4 rs5742909 was associated with increased urothelial cancer risk in the dominant model (OR = 1.56, 95% CI = 1.04-2.34).
- No significant associations were observed for the other four examined SNPs.
Why it matters
The findings suggest that inherited variation in immune checkpoint genes may be associated with susceptibility to some genitourinary cancers, with results differing by variant and population. This may help frame research into genetic contributions to cancer risk, but the reported associations do not establish causation or show that these variants can predict an individual’s risk.
What to keep in mind
The analysis pooled case-control studies, so the findings are associations and cannot establish causation. The abstract does not report the total number of participants or provide further detail on study quality.