title: Study of programmed cell death 1 (PDCD1) gene polymorphims in Iranian patients with ankylosing spondylitis.
abstract: Ankylosing spondylitis (AS) is a chronic inflammatory disease, characterized by axial arthritis in which the genetic-environmental factors seem to be involved in the pathogenesis of the disease. This study was performed to investigate the role of polymorphisms of the programmed cell death 1 (PDCD1) gene on susceptibility to AS. In this study, 161 Iranian patients with AS and 208 normal controls were enrolled; two single-nucleotide polymorphisms (SNPs) of the PDCD1 gene PD-1.3 (G, A) in nucleotide position +7146 of intron 4 and PD-1.9 (C, T) in nucleotide +7625 of exon 5 were studied. Analysis of PD-1.3 revealed that 82% of patients and 79% of controls had GG genotype, while GA and AA genotypes were detected in 17% and 0.6% of patients, respectively, and 20% and 1.4% of controls, respectively. Moreover, the genotype CC (PD-1.9) was present in 92% of patients and 97% of controls. Although these differences were not statistically significant between patients and controls, comparisons of genotypes frequencies in the AS patients, based on human leukocyte antigen (HLA)-B27, revealed that all patients who had CT genotype (PD-1.9) were HLA-B27 positive, whereas 30% of patients with CC genotype were HLA-B27 negative. There was no evidence of association for PDCD1 SNPs with AS in our study, but CT genotype (PD-1.9) seems to be associated with HLA-B27 positivity in the patients with AS.
authors.affiliation: Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Soleimanifar
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Amirzargar
authors.forename: Mahdi
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Pourfathollah
authors.forename: Esfandiar
authors.initials: E
authors.lastname: Azizi
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Jamshidi
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Mohammad Taher
authors.initials: MT
authors.lastname: Tahoori
authors.forename: Katayoon
authors.initials: K
authors.lastname: Bidad
authors.forename: Behrouz
authors.initials: B
authors.lastname: Nikbin
authors.forename: Mohammad Hossein
authors.initials: MH
authors.lastname: Nicknam
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015796:HLA-B27 Antigen; D006801:Humans; D007492:Iran / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000453:epidemiology / Q000235:genetics*
chemical_list: D015796:HLA-B27 Antigen; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor