Investigation of PD-1 gene variants in patients with endometrial cancer, a case-control study

Objective: To evaluate the possible association of two single nucleotide polymorphisms (SNPs) including PD-1.3 (+7146G/A-rs11568821) and PD-1.5 (+7785C/T-rs2227981) with endometrial cancer (EC) susceptibility. In addition, the correlations between these SNPs and available clinicopathologic characteristics of EC patients were investigated.
Materials and Methods: This case-control study included 147 women with pathologically confirmed EC and 258 age- and ethnic-matched healthy women between June 2019 and May 2022. Genomic DNA was extracted, and genotyping of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) SNPs was carried out. Haplotype analysis was also performed. Differences in allele and genotype distributions were assessed using Pearson's chi-square test with Yates correction. An unconditional logistic regression model was used to calculate the 95% confidence interval (CI) and odds ratio (OR).
Results: There were no remarkable differences in allele and genotype distributions of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) between EC patients and healthy controls. However, there was a remarkable difference in AC haplotype between EC patients and the control group. No association was also found between the investigated SNPs and clinicopathologic features of EC.
Conclusion: Our results indicated that the aforementioned SNPs were not associated with the risk of EC in the Iranian population.