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Objective <p>The inflammatory process resulting from the autoimmune response has a fundamental role in the pathogenesis of ankylosing spondylitis (AS). The <i>PDCD1</i> 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 <i>PDCD1</i> gene and their corresponding haplotypes as potential biomarkers for susceptibility to AS in Turkish patients.</p> Materials and Methods <p>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.</p> Results <p>Regarding the genotype frequencies of PD-1.1 (<i>p</i> = 0.952), PD-1.3 (<i>p</i> = 0.106), PD-1.5 (<i>p</i> = 0.653), and PD-1.9 (<i>p</i> = 0.994) polymorphisms, no significant difference was found between patients with AS and controls.</p> Conclusion <p>The <i>PDCD1</i> gene plays a crucial role in the T cell activation’s negative regulation of peripheral tolerance. Population-based differences have been reported in the <i>PDCD1</i> gene polymorphism. Our study presents data on <i>PDCD1</i> 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.</p>

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Programmed Cell Death 1 (PDCD1) Gene Polymorphisms in Patients with Ankylosing Spondylitis: A Turkish Case–Control Study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月6日

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  • Yasemin Soysal,
  • Muhammet Çınar,
  • Nazlı Şensoy,
  • Fadime Mutlu İçduygu,
  • Sedat Yılmaz,
  • İsmail Şimşek,
  • Hakan Erdem

摘要

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.