title: Protective role of R381Q (rs11209026) polymorphism in IL-23R gene in immune-mediated diseases: A comprehensive review.
abstract: Interleukin-23 (IL-23) is a regulator of cellular immune responses involved in controlling infection and autoimmune diseases. Strong evidence has shown that IL-23 plays a role in the maintenance of immune responses by influencing the proliferation and survival of IL-17-producing T-helper (TH)-17 cells. The critical role of the IL-23/TH17 axis in immune-mediated diseases has emerged from different studies. It has also been seen that polymorphisms in the IL-23 receptor (IL-23R) gene might influence IL-23 responses. Interestingly, a functional single nucleotide polymorphism (SNP) in the IL-23 receptor gene (IL-23R; rs11209026, 1142 G wild-type A reduced function, Arg381Gln, R381Q) seems to confer a measure of protection against development of inflammatory bowel disease (IBD; Crohn's disease, ulcerative colitis), ankylosing spondylitis, rheumatoid arthritis, psoriasis, thyroiditis, recurrent spontaneous abortion and asthma, suggesting that a perturbation in the IL-23 signaling pathway is likely to be relevant to the pathophysiology of these diseases. The aim of this review was to provide an evaluation of what is currently known about the protective role of R381Q variant in IL-23R gene in immune-based diseases.
authors.affiliation: a Department of Medical Immunology , School of Medicine, Mashhad University of Medical Sciences , Mashhad , Iran ;|b Shahid Sadoughi University of Medical Science , Yazd , Iran ;|c Student Research Committee, Mashhad University of Medical Sciences , Mashhad , Iran ;
authors.forename: Elham
authors.initials: E
authors.lastname: Abdollahi
authors.affiliation: d Department of Immunology , School of Medical Sciences, Tarbiat Modares University , Tehran , Iran ;
authors.forename: Fataneh
authors.initials: F
authors.lastname: Tavasolian
authors.affiliation: c Student Research Committee, Mashhad University of Medical Sciences , Mashhad , Iran ;|e Department of Medical Biotechnology , Mashhad University of Medical Sciences , Mashhad , Iran ;
authors.forename: Amir Abbas
authors.initials: AA
authors.lastname: Momtazi-Borojeni
authors.affiliation: f Department of Immunology , Shahid Sadoughi University , Yazd , Iran ;|g Reproductive Immunology Research Center, Shahid Sadoughi University , Yazd , Iran ;
authors.forename: Morteza
authors.initials: M
authors.lastname: Samadi
authors.affiliation: h Research Center for HIV/AIDS, HTLV1 and Viral Hepatitis, Iranian Academic for Education, Culture and Research (ACECR), Mashhad Branch , Mashhad , Iran ;|i Inflammation/Inflammatory Diseases Research Center, Mashhad University of Medical Sciences , Mashhad , Iran.
authors.forename: Houshang
authors.initials: H
authors.lastname: Rafatpanah
mesh_terms: D000818:Animals; D001249:Asthma / Q000235:genetics* / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007249:Inflammation / Q000235:genetics* / Q000276:immunology; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000276:immunology; D053759:Interleukin-23 / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D015398:Signal Transduction; D058504:Th17 Cells / Q000276:immunology*
chemical_list: C515500:IL23R protein, human; D053759:Interleukin-23; D018123:Receptors, Interleukin
keywords: IL-23R gene; R381Q (rs11209026) polymorphism; immune-mediated diseases