Programmed Cell Death 1 (PDCD1) Gene Polymorphisms in Patients with Ankylosing Spondylitis: A Turkish Case–Control Study
Bratislava Medical Journal, vol.1, no.1, pp.1, 2026 (SCI-Expanded)
- Publication Type: Article / Article
- Volume: 1 Issue: 1
- Publication Date: 2026
- Doi Number: 10.1007/s44411-026-00593-3
- Journal Name: Bratislava Medical Journal
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
- Page Numbers: pp.1
- Open Archive Collection: AVESIS Open Access Collection
- Dokuz Eylül University Affiliated: Yes
Abstract
Objective
The inflammatory process resulting from the autoimmune response has a fundamental role in the pathogenesis of ankylosing spondylitis (AS). The PDCD1 gene regulates the immune system and may play a role in the pathogenesis of autoimmune diseases. In this study, we aimed to investigate the role of single-nucleotide polymorphisms (SNPs) within the PDCD1 gene and their corresponding haplotypes as potential biomarkers for susceptibility to AS in Turkish patients.
Materials and Methods
A total of 150 AS patients and 144 healthy individuals were examined for the genotypes of PD-1.1, PD-1.3, PD-1.5, and PD-1.9 SNPs using the method of PCR–RFLP from peripheral blood DNA extracts.
Results
Regarding the genotype frequencies of PD-1.1 (p = 0.952), PD-1.3 (p = 0.106), PD-1.5 (p = 0.653), and PD-1.9 (p = 0.994) polymorphisms, no significant difference was found between patients with AS and controls.
Conclusion
The PDCD1 gene plays a crucial role in the T cell activation’s negative regulation of peripheral tolerance. Population-based differences have been reported in the PDCD1 gene polymorphism. Our study presents data on PDCD1 gene polymorphism for the first time in a Turkish cohort of ankylosing spondylitis patients and discusses the role of this gene as a biomarker for AS disease pathogenesis.