Objective: Gestational trophoblastic neoplasms (also termed gestational trophoblastic diseases [GTDs]) encompass a spectrum of interrelated tumors originating from trophoblasts. The search is ongoing for identification of the culpable gene defects in GTDs. Considering the role of PDCD1, CTLA-4 and p53 genes in immune regulation and tumor progression, we explored the association of single-nucleotide polymorphisms (SNPs) corresponding to each gene and GTDs.
Study design: In a genetic association study, PD1.5 (7785) C/T, CTLA-4 +49 A/G, and p53 codon 72 Arg/Pro SNPs were genotyped in case-control groups with patient/control ratios of 92:295, 83:84 and 85:150, respectively.
Results: The C/T genotype of the PDCD1 gene was significantly more prevalent among patients with GTDs (40.2%) than controls (19%) (odds ratio [OR] = 2.87; 95% CI = 1.72, 4.77; p < 0.001). Moreover, the C allele was present in 65.8% of patients and 49.5% of controls (OR = 1.96; 95% CI = 1.38, 2.76; p < 0.001). There was no difference in the distribution of each genotype or allele between patients with GTDs and controls considering other studied SNPs.
Conclusion: The results of the current study demonstrate that SNPs in the PDCD1 gene confer susceptibility to GTDs, while there is no association between CTLA-4 and p53 gene polymorphisms and GTDs in an Iranian population.