{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T17:21:09Z","timestamp":1789924869417,"version":"4.0.1"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2012,12]]},"abstract":"Abstract<\/jats:title>\n \n Objective:<\/jats:title>\n The objective of this study is to comprehensively define the genetic basis of early onset myasthenia gravis (EOMG).<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n We have carried out a 2\u2010stage genome\u2010wide association study on a total of 649 North European EOMG patients. Cases were matched 1:4 with controls of European ancestry. We performed imputation and conditional analyses across the major histocompatibility complex, as well as in the top regions of association outside the human leukocyte antigen (HLA) region.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n We observed the strongest association in the HLA class I region at rs7750641 (\n p<\/jats:italic>\n = 1.2 \u00d7 10\n \u221292<\/jats:sup>\n ; odds ratio [OR], 6.25). By imputation and conditional analyses, HLA\u2010B*08 proves to be the major associated allele (\n p<\/jats:italic>\n = 2.87 \u00d7 10\n \u2212113<\/jats:sup>\n ; OR, 6.41). In addition to the expected association with\n PTPN22<\/jats:italic>\n (rs2476601; OR, 1.71;\n p<\/jats:italic>\n = 8.2 \u00d7 10\n \u221210<\/jats:sup>\n ), an imputed coding variant (rs2233290) at position 151 (Pro\u2192Ala) in the TNFAIP3\u2010interacting protein 1,\n TNIP1<\/jats:italic>\n , confers even stronger risk than\n PTPN22<\/jats:italic>\n (OR, 1.91;\n p<\/jats:italic>\n = 3.2 \u00d7 10\n \u221210<\/jats:sup>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation:<\/jats:title>\n \n The association at\n TNIP1<\/jats:italic>\n in EOMG implies disease mechanisms involving ubiquitin\u2010dependent dysregulation of NF\u2010\u03baB signaling. The localization of the major HLA signal to the HLA\u2010B*08 allele suggests that CD8\n +<\/jats:sup>\n T cells may play a key role in disease initiation or pathogenesis. ANN NEUROL 2012;\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ana.23691","type":"journal-article","created":{"date-parts":[[2012,7,18]],"date-time":"2012-07-18T23:36:09Z","timestamp":1342654569000},"page":"927-935","source":"Crossref","is-referenced-by-count":156,"title":["Risk for myasthenia gravis maps to a\n 151<\/sup>\n Pro\u2192Ala change in TNIP1 and to human leukocyte antigen\u2010B*08"],"prefix":"10.1002","volume":"72","author":[{"given":"Peter K.","family":"Gregersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Kosoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette T.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Lamb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Sussman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"McKee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim R.","family":"Simpfendorfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritva","family":"Pirskanen\u2010Matell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik","family":"Piehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Pan\u2010Hammarstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan J. 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