Association of interferon regulatory factor 5 (IRF5) gene polymorphisms with juvenile idiopathic arthritis |
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Authors: | Samira Esmaeili Reykande Arezou Rezaei Maryam Sadr Mahsima Shabani Farnaz Najmi Varzaneh Vahid Ziaee Nima Rezaei |
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Affiliation: | 1.Molecular Immunology Research Center,Tehran University of Medical Sciences,Tehran,Iran;2.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN),Tehran,Iran;3.Research Center for Immunodeficiencies, Children’s Medical Center,Tehran University of Medical Sciences,Tehran,Iran;4.Russell H. Morgan Department of Radiology and Radiological Sciences,Johns Hopkins University School of Medicine,Baltimore,USA;5.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA),Universal Scientific Education and Research Network (USERN),Baltimore,USA;6.Division of Pediatric Rheumatology, Pediatrics Center of Excellence, Children’s Medical Center,Tehran University of Medical Sciences,Tehran,Iran;7.Department of Immunology, School of Medicine,Tehran University of Medical Sciences,Tehran,Iran;8.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN),Sheffield,UK |
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Abstract: | Interferon regulatory factor 5 (IRF5) is a member of IRF family which induce signaling pathways and are involved in modulation of cell growth, differentiation, apoptosis, and immune system activity. Juvenile idiopathic arthritis (JIA) is an auto-inflammatory syndrome where the inflammatory markers are believed to play a fundamental role in its pathogenesis. In this study, we aimed to assess the association of IRF5 gene polymorphisms with susceptibility of JIA in Iranian population. Three IRF5 single-nucleotide polymorphisms (rs10954213 A/G, rs2004640 G/T, and rs3807306 G/T) were genotyped using TaqMan assays in 55 patients with JIA and 63 matched healthy individuals. The frequency of the IRF5 rs2004640 T allele was significantly higher (69 vs 45%, P value?=?0.0013) in JIA group as compared to control. The frequency of the IRF5 rs 2004640 G allele was significantly higher in the control group in comparison to JIA group (54 vs 32%, P value?=?0.001). Allele and genotype frequencies of the rs10954213 and rs3807306 did not show any significant difference between JIA and control group. IRF5 rs 2004640 T allele can be considered as a risk factor for the development of JIA and presence of rs 2004640 G may be act as protective factor. |
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