{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:56:31Z","timestamp":1790700991531,"version":"4.1.0"},"reference-count":107,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T00:00:00Z","timestamp":1659398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>It is known that the etiology and clinical outcomes of autoimmune diseases are associated with a combination of genetic and environmental factors. In the case of the genetic factor, the SNPs of the PTPN22 gene have shown strong associations with several diseases. The recent exploding numbers of genetic studies have made it possible to find these associations rapidly, and a variety of autoimmune diseases were found to be associated with PTPN22 polymorphisms. Proteins encoded by PTPN22 play a key role in the adaptative and immune systems by regulating both T and B cells. Gene variants, particularly SNPs, have been shown to significantly disrupt several immune functions. In this review, we summarize the mechanism of how PTPN22 and its genetic variants are involved in the pathophysiology of autoimmune diseases. In addition, we sum up the findings of studies reporting the genetic association of PTPN22 with different types of diseases, including type 1 diabetes mellitus, systemic lupus erythematosus, juvenile idiopathic arthritis, and several other diseases. By understanding these findings comprehensively, we can explain the complex etiology of autoimmunity and help to determine the criteria of disease diagnosis and prognosis, as well as medication developments.<\/jats:p>","DOI":"10.3390\/medicina58081034","type":"journal-article","created":{"date-parts":[[2022,8,3]],"date-time":"2022-08-03T00:15:26Z","timestamp":1659485726000},"page":"1034","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review"],"prefix":"10.3390","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8524-6058","authenticated-orcid":false,"given":"Kalthoum","family":"Tizaoui","sequence":"first","affiliation":[{"name":"Department of Basic Sciences, Division of Histology and Immunology, Faculty of Medicine Tunis, Tunis El Manar University, Tunis 2092, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2326-1820","authenticated-orcid":false,"given":"Jae Il","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwang Hun","family":"Jeong","sequence":"additional","affiliation":[{"name":"College of Medicine, Gyeongsang National University, Jinju 52727, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Won","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Yonsei University Wonju College of Medicine, Wonju 26426, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seoyeon","family":"Park","sequence":"additional","affiliation":[{"name":"Yonsei University College of Medicine, Seoul 06273, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5352-5423","authenticated-orcid":false,"given":"Ji Hong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Young","family":"Hwang","sequence":"additional","affiliation":[{"name":"Yonsei University College of Medicine, Seoul 06273, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7650-5393","authenticated-orcid":false,"given":"Se Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Eulji University School of Medicine, Daejeon 35233, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9565-5004","authenticated-orcid":false,"given":"Ai","family":"Koyanagi","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Parc Sanitari Sant Joan de D\u00e9u, CIBERSAM, Dr. Antoni Pujadas, 42, Sant Boi de Llobregat, 08830 Barcelona, Spain"},{"name":"ICREA, Pg. Lluis Companys 23, 08010 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5340-9833","authenticated-orcid":false,"given":"Lee","family":"Smith","sequence":"additional","affiliation":[{"name":"Centre for Health Performance and Wellbeing, Anglia Ruskin University, Cambridge CB1 1PT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102531","DOI":"10.1016\/j.autrev.2020.102531","article-title":"Worldwide trends in all-cause mortality of auto-immune systemic diseases between 2001 and 2014","volume":"19","author":"Scherlinger","year":"2020","journal-title":"Autoimmun. 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