Investigation of PD-1 gene variants in patients with endometrial cancer: A case-control study.

Objective: To assess the possible association of two single-nucleotide polymorphisms (SNPs), PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T), with endometrial cancer (EC) susceptibility. In addition, the correlations between these SNPs and available clinicopathologic characteristics of patients with EC were investigated.

Materials and methods: In this case-control study, 147 women with pathologically confirmed EC and 258 age- and ethnically matched healthy women were enrolled between June 2019 and May 2022. Genomic DNA was extracted, and genotyping of PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T) SNPs was performed. Haplotype analysis was also performed. Pearson's chi-square test with Yates correction was used to evaluate differences in allele and genotype distributions. The 95% confidence interval and odds ratio were determined using an unconditional logistic regression model.

Results: There were no remarkable differences in the allele and genotype distributions of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) between healthy controls and EC patients. However, there was a remarkable difference in the AC haplotype between the control and EC groups. No association was found between the investigated SNPs and the clinicopathologic features of EC.

Conclusion: Our results indicated that the aforementioned SNPs were not related to the risk of EC in the southern Iranian population.