{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:19:44Z","timestamp":1788484784976,"version":"build-2803163510"},"reference-count":35,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T00:00:00Z","timestamp":1552348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>The 1858T allele in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) locus shows one of the strongest and most consistent genetic associations with autoimmune diseases. We synthesized all meta-analyses reporting a genetic association of the PTPN22 1858T C\/T polymorphism with autoimmune diseases. This work examined their validity to discover false positive results under Bayesian methods. We conducted a PubMed search to identify relevant publications and extracted the respective results, published until 30 November 2018. In observational studies, the associations of 1858 C\/T genetic variant were noteworthy for 12 autoimmune or autoimmunity-related diseases (rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, juvenile idiopathic arthritis, Crohn\u2019s disease, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, vitiligo, Graves\u2019 disease, myasthenia gravis, Addison\u2019s disease, giant cell arteritis, and endometriosis). In contrast, we could not confirm the noteworthiness for eight diseases (systemic sclerosis, psoriasis, Beh\u00e7et\u2019s disease, autoimmune thyroid disease, alopecia areata, Sj\u00f6gren\u2019s syndrome, inflammatory bowel disease, and ankylosing spondylitis). From the meta-analysis of genome-wide association studies (GWAS) with a p-value &lt; 5 \u00d7 10\u22128, findings verified noteworthiness for all autoimmune diseases (psoriatic arthritis, myasthenia gravis, juvenile idiopathic arthritis and rheumatoid arthritis). The results from meta-analysis of GWAS showing a p-value ranging between 0.05 and 5 \u00d7 10\u22128 were noteworthy under both Bayesian approaches (ANCA-associated vasculitis, type 1 diabetes mellitus, giant cell arteritis and juvenile idiopathic arthritis). Re-analysis of observational studies and GWAS by Bayesian approaches revealed the noteworthiness of all significant associations observed by GWAS, but noteworthiness could not be confirmed for all associations found in observational studies.<\/jats:p>","DOI":"10.3390\/jcm8030347","type":"journal-article","created":{"date-parts":[[2019,3,13]],"date-time":"2019-03-13T04:07:37Z","timestamp":1552450057000},"page":"347","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Association of PTPN22 1858C\/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach"],"prefix":"10.3390","volume":"8","author":[{"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 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seon","family":"Kim","sequence":"additional","affiliation":[{"name":"School of Medicine, Kyungpook National University, Daegu 41944, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwang","family":"Jeong","sequence":"additional","affiliation":[{"name":"College of Medicine, Gyeongsang National University, Jinju 52727, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2945-2946","authenticated-orcid":false,"given":"Andreas","family":"Kronbichler","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, 6020 Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwang","family":"Lee","sequence":"additional","affiliation":[{"name":"Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1511-9587","authenticated-orcid":false,"given":"Keum","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yonsei University College of Medicine, Yonsei-ro 50, Seodaemun-gu, C.P.O. Box 8044, Seoul 03722, Korea"},{"name":"Department of Pediatric Nephrology, Severance Children\u2019s Hospital, Seoul 03722, Korea"},{"name":"Institute of Kidney Disease Research, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2326-1820","authenticated-orcid":false,"given":"Jae","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yonsei University College of Medicine, Yonsei-ro 50, Seodaemun-gu, C.P.O. Box 8044, Seoul 03722, Korea"},{"name":"Department of Pediatric Nephrology, Severance Children\u2019s Hospital, Seoul 03722, Korea"},{"name":"Institute of Kidney Disease Research, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,3,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1086\/422827","article-title":"A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis","volume":"75","author":"Begovich","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng1323","article-title":"A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes","volume":"36","author":"Bottini","year":"2004","journal-title":"Nat. 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