The role of PTPN22 in the pathogenesis of autoimmune diseases: A comprehensive review |
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| Institution: | 1. Department of Basic Sciences, Division of Histology and Immunology, Faculty of Medicine Tunis, Tunis El Manar University, Tunis 1068, Tunisia;2. Department of Pharmaceutical Sciences and Interdepartmental Research Center of Pharmacogenetics and Pharmacogenomics (CRIFF), University of Piemonte Orientale, Novara, Italy;3. Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Republic of Korea;4. Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria;5. University of Florida College of Medicine, Gainesville, FL 32610, United States;1. Bruyere Research Institute, 43 Bruyère Street, Ottawa K1N 5C8, Ontario, Canada;2. Faculty of Medicine, University of Ottawa, Ontario, Canada;3. Faculty of Science, University of Ottawa, Ontario, Canada;4. School of Epidemiology and Public Health, University of Ottawa, Ontario, Canada;5. Cochrane Campbell Global Ageing Partnership, United Kingdom;6. CIDEF, ISHIP, ISMAT - Instituto Superior Manuel Teixeira Gomes, Portimão, Portugal;7. Cochrane Musculoskeletal, Faculty of Medicine, University of Ottawa, Ontario, Canada;1. Academic Rheumatology, University of Nottingham, Nottingham, UK;2. NIHR Nottingham Biomedical Research Centre, Nottingham, UK;3. Bone and Joint Research Group, Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand;4. Rheumatology Unit, ASST-Fatebenefratelli L, Sacco University Hospital, University of Milan, Italy;5. Department of Rheumatology, Hopital Saint-Philibert, Lille Catholic University, Lille, France;6. Department of Rheumatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonòma de Barcelona, Spain;7. The Central Remedial Clinic, Dublin, Ireland;8. Holy Cross Hospital, Silver Spring, MD, USA;9. Suburban Hospital, Bethesda, MD, USA;10. Department of Clinical Research, Copenhagen and Research Unit of Rheumatology, Section for Biostatistics and Evidence-Based Research, the Parker Institute, Bispebjerg and Frederiksberg Hospital, University of Southern Denmark, Odense University Hospital, Denmark;11. Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON, Canada;12. Medicine Service, VA Medical Center, Birmingham, AL, USA;13. Department of Medicine at the School of Medicine, University of Alabama at Birmingham (UAB), Birmingham, AL, USA;14. Department of Epidemiology at the UAB School of Public Health, Birmingham, AL, USA;15. Division of Rheumatology, Inflammation and Immunity, Brigham and Women''s Hospital, Boston, MA, USA;1. Musculoskeletal Statistics Unit, The Parker Institute, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark;2. Department of Rehabilitation, Municipality of Guldborgsund, Nykoebing F, Denmark;3. David Geffen School of Med. Division Rheumatology. UCLA, USA;4. Duke University School of Medicine, Durham, NC, USA;5. Departments of Medicine, Epidemiology and Population Health, Biomedical Data Science and Statistics, and Meta-Research Innovation Center at Stanford (METRICS), Stanford University, California, USA;6. Department of Medicine, School of Epidemiology, Public Health and Community Medicine, University of Ottawa, Canada;7. Department of Medicine, University of Calgary, Cumming School of Medicine, Calgary, Canada;8. MRC North West Hub for Trials Methodology Research, Institute of Translational Medicine, University of Liverpool, Liverpool, UK;9. Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics and the Amsterdam Public Health Research Institute, Amsterdam, NL;10. Department of Health Services Research and Section of Rheumatology and Clinical Immunology, University of Texas MD Anderson Cancer Centre, Houston, TX, USA;11. Division of Immunology/Rheumatology, Stanford University, Palo Alto CA, USA;12. Healthy Motivation; Global Alliance for Musculoskeletal Health, Bone and Joint Decade, Santa Barbara, California USA;13. Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK;14. NIHR Leeds Biomedical Research Centre, Leeds, UK;15. Department of Epidemiology and Biostatistics and the Amsterdam Rheumatology and immunology Centre, Amsterdam University Medical Centers, Vrije Universiteit, Amsterdam, NL;p. Ottawa Hospital Research Institute, Clinical Epidemiology Program and School of Epidemiology and Public Health, University of Ottawa, Canada;q. Centre for Health Policy Melbourne School of Population and Global Health University of Melbourne and Northern Health, Australia;r. SDG LLC Cambridge, MA 02138, USA;s. Research Unit of Rheumatology, Department of Clinical Research, University of Southern Denmark, Odense University Hospital, Denmark |
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| Abstract: | The incidence of autoimmune diseases is increasing worldwide, thus stimulating studies on their etiopathogenesis, derived from a complex interaction between genetic and environmental factors. Genetic association studies have shown the PTPN22 gene as a shared genetic risk factor with implications in multiple autoimmune disorders. By encoding a protein tyrosine phosphatase expressed by the majority of cells belonging to the innate and adaptive immune systems, the PTPN22 gene may have a fundamental role in the development of immune dysfunction. PTPN22 polymorphisms are associated with rheumatoid arthritis, type 1 diabetes, systemic lupus erythematosus, and many other autoimmune conditions. In this review, we discuss the progress in our understanding of how PTPN22 impacts autoimmunity in both humans and animal models. In addition, we highlight the pathogenic significance of the PTPN22 gene, with particular emphasis on its role in T and B cells, and its function in innate immune cells, such as monocytes, dendritic and natural killer cells. We focus particularly on the complexity of PTPN22 interplay with biological processes of the immune system. Findings highlight the importance of studying the function of disease-associated PTPN22 variants in different cell types and open new avenues of investigation with the potential to drive further insights into mechanisms of PTPN22. These new insights will reveal important clues to the molecular mechanisms of prevalent autoimmune diseases and propose new potential therapeutic targets. |
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