title: Association of PTPN22 Gene Polymorphisms with Susceptibility to Juvenile Idiopathic Arthritis in Iranian Population.
abstract: Juvenile idiopathic arthritis (JIA), the most common cause of chronic arthritis in children, is a complex immune-mediated disease with considerable long-term morbidity and mortality. According to previous studies, PTPN22 gene has been associated with JIA in several populations. In the present study, we attempted to determine the association of PTPN22 single nucleotide polymorphisms (SNPs) with susceptibility to JIA in Iranian population. Using the Real-time PCR allelic discrimination method, samples consisting of 55 unrelated patients and 93 healthy controls were genotyped. Using Fisher exact test or Chi-square test, genotypic and allelic frequencies were estimated. The results of our study indicated a significantly decreased association of rs1310182 (OR = 0.59, 95% CI = 0.36 -0.97, p = 0.037) with JIA. This association may indicate a protective role for rs1310182 SNP against JIA. More research would be needed to elucidate the mechanistic role of this association.
authors.affiliation: a Genetics Research Center (GRC), Department of Medical Genetics, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.
authors.forename: Tayyeb
authors.initials: T
authors.lastname: Bahrami
authors.affiliation: b Molecular Immunology Research Center, Tehran University of Medical Sciences, School of Medicine , Tehran , Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Soltani
authors.affiliation: c Massachusetts General Hospital, Harvard Medical School , Boston , Massachusetts , USA.|d Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN) , Boston , Massachusetts , USA.
authors.forename: Kasra
authors.initials: K
authors.lastname: Moazzami
authors.affiliation: e Department of Epidemiology and Biostatistics , Tehran University of Medical Sciences School of Medicine , Tehran , Iran.
authors.forename: Mir Saeed
authors.initials: MS
authors.lastname: Yekaninejad
authors.affiliation: f Department of Medical Genetics , Mashhad University of Medical Sciences , Mashhad , Iran.
authors.forename: Arash
authors.initials: A
authors.lastname: Salmaninejad
authors.affiliation: g Department of Immunology , Birjand University of Medical Sciences , Birjand , Iran.
authors.forename: Ehsan
authors.initials: E
authors.lastname: Soltaninejad
authors.affiliation: h Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences , Tehran , Iran.|i Division of Pediatric Rheumatology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Vahid
authors.initials: V
authors.lastname: Ziaee
authors.affiliation: j Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.|k Department of Immunology , School of Medicine, Tehran University of Medical Sciences , Tehran , Iran.|l Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN) , Sheffield , UK.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000293:Adolescent; D000483:Alleles; D001171:Arthritis, Juvenile / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007492:Iran; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D015398:Signal Transduction
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: Iranian population; PTPN22 gene; SNPs; juvenile idiopathic arthritis; real-time PCR