PMID- 21161353 OWN - NLM STAT- MEDLINE DCOM- 20120604 LR - 20220318 IS - 1573-2576 (Electronic) IS - 0360-3997 (Linking) VI - 34 IP - 6 DP - 2011 Dec TI - Study of programmed cell death 1 (PDCD1) gene polymorphims in Iranian patients with ankylosing spondylitis. PG - 707-12 LID - 10.1007/s10753-010-9282-4 [doi] AB - 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. FAU - Soleimanifar, Narjes AU - Soleimanifar N AD - Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran. FAU - Amirzargar, Ali Akbar AU - Amirzargar AA FAU - Mahmoudi, Mahdi AU - Mahmoudi M FAU - Pourfathollah, Ali Akbar AU - Pourfathollah AA FAU - Azizi, Esfandiar AU - Azizi E FAU - Jamshidi, Ahmad Reza AU - Jamshidi AR FAU - Rezaei, Nima AU - Rezaei N FAU - Tahoori, Mohammad Taher AU - Tahoori MT FAU - Bidad, Katayoon AU - Bidad K FAU - Nikbin, Behrouz AU - Nikbin B FAU - Nicknam, Mohammad Hossein AU - Nicknam MH LA - eng PT - Journal Article PL - United States TA - Inflammation JT - Inflammation JID - 7600105 RN - 0 (HLA-B27 Antigen) RN - 0 (PDCD1 protein, human) RN - 0 (Programmed Cell Death 1 Receptor) SB - IM MH - Case-Control Studies MH - Genetic Predisposition to Disease MH - Genotype MH - HLA-B27 Antigen MH - Humans MH - Iran/epidemiology MH - *Polymorphism, Single Nucleotide MH - Programmed Cell Death 1 Receptor/*genetics MH - Spondylitis, Ankylosing/epidemiology/*genetics EDAT- 2010/12/17 06:00 MHDA- 2012/06/05 06:00 CRDT- 2010/12/17 06:00 PHST- 2010/12/17 06:00 [entrez] PHST- 2010/12/17 06:00 [pubmed] PHST- 2012/06/05 06:00 [medline] AID - 10.1007/s10753-010-9282-4 [doi] PST - ppublish SO - Inflammation. 2011 Dec;34(6):707-12. doi: 10.1007/s10753-010-9282-4.