{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:24:28Z","timestamp":1777487068959,"version":"3.51.4"},"reference-count":128,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Autoimmunity"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.jaut.2013.07.004","type":"journal-article","created":{"date-parts":[[2013,8,7]],"date-time":"2013-08-07T03:46:04Z","timestamp":1375847164000},"page":"41-54","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":97,"special_numbering":"C","title":["Novel insights into autoimmune liver diseases provided by genome-wide association studies"],"prefix":"10.1016","volume":"46","author":[{"given":"George F.","family":"Mells","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur","family":"Kaser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom H.","family":"Karlsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaut.2013.07.004_bib1","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1159\/000336704","article-title":"Diagnosis and treatment of autoimmune hepatitis","volume":"30","author":"Lata","year":"2012","journal-title":"Digestive Diseases"},{"key":"10.1016\/j.jaut.2013.07.004_bib2","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1056\/NEJMra043898","article-title":"Primary biliary cirrhosis","volume":"353","author":"Kaplan","year":"2005","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib3","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1097\/MOG.0b013e3282f9e239","article-title":"An update on primary sclerosing cholangitis","volume":"24","author":"Maggs","year":"2008","journal-title":"Current Opinion in Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib4","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1053\/j.gastro.2011.02.065","article-title":"Long-term outcomes of patients with autoimmune hepatitis managed at a nontransplant center","volume":"140","author":"Hoeroldt","year":"2011","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib5","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1038\/ajg.2010.216","article-title":"Baseline ductopenia and treatment response predict long-term histological progression in primary biliary cirrhosis","volume":"105","author":"Kumagi","year":"2010","journal-title":"The American Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib6","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s11894-011-0230-8","article-title":"Primary sclerosing cholangitis: is any treatment worthwhile?","volume":"14","author":"Barnabas","year":"2012","journal-title":"Current Gastroenterology Reports"},{"key":"10.1016\/j.jaut.2013.07.004_bib7","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1055\/s-0029-1233533","article-title":"Autoantibodies and their antigens in autoimmune hepatitis","volume":"29","author":"Bogdanos","year":"2009","journal-title":"Seminars in Liver Disease"},{"key":"10.1016\/j.jaut.2013.07.004_bib8","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1172\/JCI0214698","article-title":"Quantitative and functional analysis of PDC-E2-specific autoreactive cytotoxic T lymphocytes in primary biliary cirrhosis","volume":"109","author":"Kita","year":"2002","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.jaut.2013.07.004_bib9","doi-asserted-by":"crossref","first-page":"3374","DOI":"10.3748\/wjg.14.3374","article-title":"Autoimmune liver serology: current diagnostic and clinical challenges","volume":"14","author":"Bogdanos","year":"2008","journal-title":"World Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib10","doi-asserted-by":"crossref","first-page":"3350","DOI":"10.3748\/wjg.14.3350","article-title":"Etiopathogenesis of primary sclerosing cholangitis","volume":"14","author":"Chapman","year":"2008","journal-title":"World Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib11","doi-asserted-by":"crossref","first-page":"187","DOI":"10.3109\/00365528209182038","article-title":"HLA antigens and immunoregulatory T cells in ulcerative colitis associated with hepatobiliary disease","volume":"17","author":"Schrumpf","year":"1982","journal-title":"Scandinavian Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib12","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/gut.24.1.38","article-title":"Association of primary sclerosing cholangitis with HLA-B8","volume":"24","author":"Chapman","year":"1983","journal-title":"Gut"},{"key":"10.1016\/j.jaut.2013.07.004_bib13","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/S0168-8278(00)80061-6","article-title":"Serum autoantibodies in patients with primary sclerosing cholangitis","volume":"32","author":"Angulo","year":"2000","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib14","doi-asserted-by":"crossref","first-page":"3195","DOI":"10.1111\/j.1572-0241.2000.03292.x","article-title":"Increased frequency of autoimmune diseases in patients with primary sclerosing cholangitis","volume":"95","author":"Saarinen","year":"2000","journal-title":"The American Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib15","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.jhep.2004.10.011","article-title":"Increased prevalence of primary sclerosing cholangitis among first-degree relatives","volume":"42","author":"Bergquist","year":"2005","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib16","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0168-8278(97)80417-5","article-title":"Preferential V beta3 usage by hepatic T lymphocytes in patients with primary sclerosing cholangitis","volume":"26","author":"Broome","year":"1997","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib17","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1097\/MCG.0b013e3181c74e0d","article-title":"Concurrent autoimmune diseases in patients with autoimmune hepatitis","volume":"44","author":"Teufel","year":"2010","journal-title":"Journal of Clinical Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib18","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/gut.2004.046615","article-title":"PSC-IBD: a unique form of inflammatory bowel disease associated with primary sclerosing cholangitis","volume":"54","author":"Loftus","year":"2005","journal-title":"Gut"},{"key":"10.1016\/j.jaut.2013.07.004_bib19","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.dld.2011.05.009","article-title":"Immune-mediated diseases in primary sclerosing cholangitis","volume":"43","author":"Lamberts","year":"2011","journal-title":"Digestive and Liver Disease"},{"key":"10.1016\/j.jaut.2013.07.004_bib20","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/hep.20907","article-title":"Risk factors and comorbidities in primary biliary cirrhosis: a controlled interview-based study of 1032 patients","volume":"42","author":"Gershwin","year":"2005","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib21","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.jhep.2010.02.019","article-title":"Demographic, lifestyle, medical and familial factors associated with primary biliary cirrhosis","volume":"53","author":"Corpechot","year":"2010","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib22","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/qjmed\/hch078","article-title":"Patterns of autoimmunity in primary biliary cirrhosis patients and their families: a population-based cohort study","volume":"97","author":"Watt","year":"2004","journal-title":"QJM: Monthly Journal of the Association of Physicians"},{"key":"10.1016\/j.jaut.2013.07.004_bib23","first-page":"609","article-title":"Mitochondrial and other tissue antibodies in relatives of patients with primary biliary cirrhosis","volume":"10","author":"Feizi","year":"1972","journal-title":"Clinical and Experimental Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib24","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/j.cgh.2008.03.016","article-title":"Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis","volume":"6","author":"Bergquist","year":"2008","journal-title":"Clinical Gastroenterology and Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib25","doi-asserted-by":"crossref","first-page":"3368","DOI":"10.3748\/wjg.14.3368","article-title":"Overlap syndromes among autoimmune liver diseases","volume":"14","author":"Rust","year":"2008","journal-title":"World Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib26","doi-asserted-by":"crossref","first-page":"588","DOI":"10.7326\/0003-4819-125-7-199610010-00009","article-title":"The variant forms of autoimmune hepatitis","volume":"125","author":"Czaja","year":"1996","journal-title":"Annals of Internal Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib27","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0168-8278(00)80004-5","article-title":"Overlap of autoimmune hepatitis and primary sclerosing cholangitis: an evaluation of a modified scoring system","volume":"33","author":"Kaya","year":"2000","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib28","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1034\/j.1600-0641.2000.033004543.x","article-title":"High prevalence of autoimmune hepatitis among patients with primary sclerosing cholangitis","volume":"33","author":"van Buuren","year":"2000","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib29","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1111\/j.1572-0241.2005.41841.x","article-title":"Clinical course and outcome of autoimmune hepatitis\/primary sclerosing cholangitis overlap syndrome","volume":"100","author":"Floreani","year":"2005","journal-title":"The American Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib30","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/hep.510280203","article-title":"Primary biliary cirrhosis-autoimmune hepatitis overlap syndrome: clinical features and response to therapy","volume":"28","author":"Chazouilleres","year":"1998","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib31","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/hep.21229","article-title":"Development of autoimmune hepatitis in patients with typical primary biliary cirrhosis","volume":"44","author":"Poupon","year":"2006","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib32","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1002\/hep.1840360615","article-title":"Evolution of autoimmune hepatitis to primary sclerosing cholangitis: a sequential syndrome","volume":"36","author":"Abdo","year":"2002","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib33","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1016\/j.jhep.2011.10.025","article-title":"Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review","volume":"56","author":"Boonstra","year":"2012","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib34","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/S0168-8278(99)80097-X","article-title":"Familial primary biliary cirrhosis reassessed: a geographically-based population study","volume":"30","author":"Jones","year":"1999","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib35","doi-asserted-by":"crossref","first-page":"315","DOI":"10.2169\/internalmedicine.48.1533","article-title":"A\u00a0familial case of autoimmune hepatitis","volume":"48","author":"Yoshida","year":"2009","journal-title":"Internal Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib36","doi-asserted-by":"crossref","first-page":"591","DOI":"10.2298\/VSP0508591N","article-title":"Occurrence of autoimmune chronic hepatitis in siblings","volume":"62","author":"Nozic","year":"2005","journal-title":"Vojnosanitetski pregled"},{"key":"10.1016\/j.jaut.2013.07.004_bib37","first-page":"113","article-title":"Two sister cases of autoimmune hepatitis","volume":"44","author":"Ohira","year":"1998","journal-title":"Fukushima Journal of Medical Science"},{"key":"10.1016\/j.jaut.2013.07.004_bib38","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S0168-8278(99)80067-1","article-title":"Tumour necrosis factor-alpha promoter polymorphisms in primary biliary cirrhosis","volume":"30","author":"Jones","year":"1999","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib39","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1016\/S0168-8278(99)80135-4","article-title":"The tumor necrosis factor-alpha promoter correlates with progression of primary biliary cirrhosis","volume":"30","author":"Tanaka","year":"1999","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib40","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0168-8278(99)80220-7","article-title":"Primary biliary cirrhosis shows association with genetic polymorphism of tumour necrosis factor alpha promoter region","volume":"31","author":"Gordon","year":"1999","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib41","first-page":"505","article-title":"Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population","volume":"26","author":"Fan","year":"2004","journal-title":"Zhongguo Yi Xue Ke Xue Yuan Xue Bao Acta Academiae Medicinae Sinicae"},{"key":"10.1016\/j.jaut.2013.07.004_bib42","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S0168-8278(99)80238-4","article-title":"TNF gene polymorphisms in primary biliary cirrhosis: a critical appraisal","volume":"31","author":"Donaldson","year":"1999","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib43","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1056\/NEJMoa0810440","article-title":"Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants","volume":"360","author":"Hirschfield","year":"2009","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib44","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1038\/ng.627","article-title":"Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis","volume":"42","author":"Liu","year":"2010","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib45","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/ng.789","article-title":"Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis","volume":"43","author":"Mells","year":"2011","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib46","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ajhg.2012.08.010","article-title":"Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population","volume":"91","author":"Nakamura","year":"2012","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib47","doi-asserted-by":"crossref","first-page":"5209","DOI":"10.1093\/hmg\/dds359","article-title":"Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants","volume":"21","author":"Juran","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib48","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1038\/ng.2395","article-title":"Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis","volume":"44","author":"Liu","year":"2012","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib49","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1038\/ng.631","article-title":"Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis","volume":"42","author":"Hirschfield","year":"2010","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib50","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1053\/j.gastro.2009.11.046","article-title":"Genome-wide association analysis in primary sclerosing cholangitis","volume":"138","author":"Karlsen","year":"2010","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib51","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng.728","article-title":"Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci","volume":"43","author":"Melum","year":"2011","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib52","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1002\/hep.24307","article-title":"Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9","volume":"53","author":"Janse","year":"2011","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib53","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.jhep.2012.03.031","article-title":"Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci","volume":"57","author":"Folseraas","year":"2012","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib54","doi-asserted-by":"crossref","first-page":"820","DOI":"10.3109\/00365521.2012.682090","article-title":"Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis","volume":"47","author":"Srivastava","year":"2012","journal-title":"Scandinavian Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib55","doi-asserted-by":"crossref","DOI":"10.1002\/hep.25977","article-title":"Genome-wide association analysis in sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4","author":"Ellinghaus","year":"2013","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib56","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1038\/ng.2616","article-title":"Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis","volume":"45","author":"Liu","year":"2013","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib57","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.trim.2005.03.001","article-title":"Features of MHC and NK gene clusters","volume":"14","author":"Kelley","year":"2005","journal-title":"Transplant Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib58","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1744-313X.2008.00765.x","article-title":"Human MHC architecture and evolution: implications for disease association studies","volume":"35","author":"Traherne","year":"2008","journal-title":"International Journal of Immunogenetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib59","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/hep.1840130119","article-title":"Dual association of HLA DR2 and DR3 with primary sclerosing cholangitis","volume":"13","author":"Donaldson","year":"1991","journal-title":"Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib60","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1034\/j.1399-0039.1999.530502.x","article-title":"HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations","volume":"53","author":"Spurkland","year":"1999","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.jaut.2013.07.004_bib61","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1080\/0891693021000054093","article-title":"Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis","volume":"35","author":"Donaldson","year":"2002","journal-title":"Autoimmunity"},{"key":"10.1016\/j.jaut.2013.07.004_bib62","doi-asserted-by":"crossref","first-page":"3080","DOI":"10.1093\/hmg\/ddq197","article-title":"Refining the association of MHC with multiple sclerosis in African Americans","volume":"19","author":"McElroy","year":"2010","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib63","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1136\/gut.2003.031732","article-title":"Genetics of liver disease: immunogenetics and disease pathogenesis","volume":"53","author":"Donaldson","year":"2004","journal-title":"Gut"},{"key":"10.1016\/j.jaut.2013.07.004_bib64","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.bpg.2011.09.010","article-title":"Genetics in primary sclerosing cholangitis","volume":"25","author":"Folseraas","year":"2011","journal-title":"Best Practice & Research Clinical Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib65","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1093\/bioinformatics\/btr061","article-title":"HLA*IMP\u2013an integrated framework for imputing classical HLA alleles from SNP genotypes","volume":"27","author":"Dilthey","year":"2011","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jaut.2013.07.004_bib66","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/gene.2012.17","article-title":"Classical HLA-DRB1 and DPB1 alleles account for HLA associations with primary biliary cirrhosis","volume":"13","author":"Invernizzi","year":"2012","journal-title":"Genes and Immunity"},{"key":"10.1016\/j.jaut.2013.07.004_bib67","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1053\/gast.1997.v112.pm9178696","article-title":"Allelic basis for HLA-encoded susceptibility to type 1 autoimmune hepatitis","volume":"112","author":"Strettell","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib68","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.jhep.2004.12.019","article-title":"Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis","volume":"42","author":"Yoshizawa","year":"2005","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib69","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1111\/j.1572-0241.1999.01229.x","article-title":"Genetic heterogeneity in susceptibility to autoimmune hepatitis types 1 and 2","volume":"94","author":"Bittencourt","year":"1999","journal-title":"The American Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib70","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0198-8859(00)00234-2","article-title":"Analysis of HLA haplotypes in autoimmune hepatitis type 1: identifying the major susceptibility locus","volume":"62","author":"Goldberg","year":"2001","journal-title":"Human Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib71","first-page":"2197","article-title":"Genetic distinctions between types 1 and 2 autoimmune hepatitis","volume":"92","author":"Czaja","year":"1997","journal-title":"The American Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib72","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/S0168-8278(97)80106-7","article-title":"Autoimmune hepatitis type 2 and hepatitis C virus infection: study of HLA antigens","volume":"26","author":"Jurado","year":"1997","journal-title":"Journal of Hepatology"},{"key":"10.1016\/j.jaut.2013.07.004_bib73","doi-asserted-by":"crossref","first-page":"e1002254","DOI":"10.1371\/journal.pgen.1002254","article-title":"Pervasive sharing of genetic effects in autoimmune disease","volume":"7","author":"Cotsapas","year":"2011","journal-title":"PLoS Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib74","doi-asserted-by":"crossref","first-page":"176","DOI":"10.3389\/fgene.2012.00176","article-title":"Bayesian methods for multivariate modeling of pleiotropic SNP associations and genetic risk prediction","volume":"3","author":"Hartley","year":"2012","journal-title":"Frontiers in Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib75","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/nature11582","article-title":"Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease","volume":"491","author":"Jostins","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jaut.2013.07.004_bib76","doi-asserted-by":"crossref","first-page":"52ra72","DOI":"10.1126\/scitranslmed.3001107","article-title":"Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis","volume":"2","author":"Hueber","year":"2010","journal-title":"Science Translational Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib77","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1056\/NEJMoa1109997","article-title":"Anti-interleukin-17 monoclonal antibody ixekizumab in chronic plaque psoriasis","volume":"366","author":"Leonardi","year":"2012","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib78","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1136\/gutjnl-2011-301668","article-title":"Secukinumab, a human anti-IL-17A monoclonal antibody, for moderate to severe Crohn's disease: unexpected results of a randomised, double-blind placebo-controlled trial","volume":"61","author":"Hueber","year":"2012","journal-title":"Gut"},{"key":"10.1016\/j.jaut.2013.07.004_bib79","doi-asserted-by":"crossref","first-page":"503","DOI":"10.2177\/jsci.35.503","article-title":"Analysis of disease-pathway by identifying susceptibility genes to primary biliary cirrhosis","volume":"35","author":"Makamura","year":"2012","journal-title":"Nihon Rinsho Men'eki Gakkai kaishi"},{"key":"10.1016\/j.jaut.2013.07.004_bib80","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1038\/ng.717","article-title":"Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci","volume":"42","author":"Franke","year":"2010","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib81","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng.764","article-title":"Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47","volume":"43","author":"Anderson","year":"2011","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib82","doi-asserted-by":"crossref","first-page":"e1002293","DOI":"10.1371\/journal.pgen.1002293","article-title":"A\u00a0genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci","volume":"7","author":"Bradfield","year":"2011","journal-title":"PLoS Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib83","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/HCO.0b013e328352707d","article-title":"Elements of 'missing heritability'","volume":"27","author":"Marian","year":"2012","journal-title":"Current Opinion in Cardiology"},{"key":"10.1016\/j.jaut.2013.07.004_bib84","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1038\/ng.998","article-title":"Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease","volume":"43","author":"Trynka","year":"2011","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib85","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1093\/hmg\/11.20.2417","article-title":"The allelic architecture of human disease genes: common disease-common variant...or not?","volume":"11","author":"Pritchard","year":"2002","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib86","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0198-8859(94)90047-7","article-title":"T\u00a0cells from the small intestinal mucosa of a DR4, DQ7\/DR4, DQ8 celiac disease patient preferentially recognize gliadin when presented by DQ8","volume":"41","author":"Lundin","year":"1994","journal-title":"Human Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib87","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/35079107","article-title":"Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease","volume":"411","author":"Hugot","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jaut.2013.07.004_bib88","doi-asserted-by":"crossref","first-page":"9362","DOI":"10.1073\/pnas.0903103106","article-title":"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits","volume":"106","author":"Hindorff","year":"2009","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.jaut.2013.07.004_bib89","doi-asserted-by":"crossref","first-page":"3468","DOI":"10.1093\/hmg\/ddq248","article-title":"Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease","volume":"19","author":"McGovern","year":"2010","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib90","doi-asserted-by":"crossref","first-page":"19030","DOI":"10.1073\/pnas.1106408108","article-title":"Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype","volume":"108","author":"Rausch","year":"2011","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.jaut.2013.07.004_bib91","doi-asserted-by":"crossref","first-page":"e20113","DOI":"10.1371\/journal.pone.0020113","article-title":"Secretor genotype (FUT2 gene) is strongly associated with the composition of Bifidobacteria in the human intestine","volume":"6","author":"Wacklin","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jaut.2013.07.004_bib92","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/nrmicro2540","article-title":"Unravelling the effects of the environment and host genotype on the gut microbiome","volume":"9","author":"Spor","year":"2011","journal-title":"Nature Reviews in Microbiology"},{"key":"10.1016\/j.jaut.2013.07.004_bib93","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/nature11225","article-title":"Dietary-fat-induced taurocholic acid promotes pathobiont expansion and colitis in Il10\u2212\/\u2212 mice","volume":"487","author":"Devkota","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jaut.2013.07.004_bib94","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/bjs.6454","article-title":"Sulphate-reducing bacteria and hydrogen sulphide in the aetiology of ulcerative colitis","volume":"96","author":"Rowan","year":"2009","journal-title":"British Journal of Surgery"},{"key":"10.1016\/j.jaut.2013.07.004_bib95","doi-asserted-by":"crossref","first-page":"3814","DOI":"10.3748\/wjg.v18.i29.3814","article-title":"Impact of environmental and dietary factors on the course of inflammatory bowel disease","volume":"18","author":"Cabre","year":"2012","journal-title":"World Journal of Gastroenterology"},{"key":"10.1016\/j.jaut.2013.07.004_bib96","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1038\/ng.221","article-title":"Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility","volume":"40","author":"Franke","year":"2008","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib97","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1038\/ng.379","article-title":"HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin","volume":"41","author":"Daly","year":"2009","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib98","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1038\/nature08463","article-title":"Genetic variation in IL28B and spontaneous clearance of hepatitis C virus","volume":"461","author":"Thomas","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jaut.2013.07.004_bib99","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/nature08825","article-title":"ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C","volume":"464","author":"Fellay","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jaut.2013.07.004_bib100","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.pharmthera.2011.01.012","article-title":"The gut microbiome as therapeutic target","volume":"130","author":"Cani","year":"2011","journal-title":"Pharmacology & Therapeutics"},{"key":"10.1016\/j.jaut.2013.07.004_bib101","series-title":"Genetics of primary biliary cirrhosis","author":"Mells","year":"2013"},{"key":"10.1016\/j.jaut.2013.07.004_bib102","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1182\/blood-2002-02-0438","article-title":"The transcription factor Spi-B is expressed in plasmacytoid DC precursors and inhibits T-, B-, and NK-cell development","volume":"101","author":"Schotte","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.jaut.2013.07.004_bib103","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1182\/blood-2011-06-364976","article-title":"IRF-8 extinguishes neutrophil production and promotes dendritic cell lineage commitment in both myeloid and lymphoid mouse progenitors","volume":"119","author":"Becker","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.jaut.2013.07.004_bib104","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/sj.cr.7310018","article-title":"IRF family proteins and type I interferon induction in dendritic cells","volume":"16","author":"Tailor","year":"2006","journal-title":"Cell Research"},{"key":"10.1016\/j.jaut.2013.07.004_bib105","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/nri1900","article-title":"IRFs: master regulators of signalling by Toll-like receptors and cytosolic pattern-recognition receptors","volume":"6","author":"Honda","year":"2006","journal-title":"Nature Reviews in Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib106","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.it.2008.03.005","article-title":"Turning NF-kappaB and IRFs on and off in DC","volume":"29","author":"Kaisho","year":"2008","journal-title":"Trends in Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib107","doi-asserted-by":"crossref","first-page":"5866","DOI":"10.2741\/3122","article-title":"MSK activation and physiological roles","volume":"13","author":"Arthur","year":"2008","journal-title":"Frontiers in Bioscience: A Journal and Virtual Library"},{"key":"10.1016\/j.jaut.2013.07.004_bib108","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.cellsig.2012.02.006","article-title":"Signal transduction by tumor necrosis factor receptors","volume":"24","author":"Cabal-Hierro","year":"2012","journal-title":"Cellular Signalling"},{"key":"10.1016\/j.jaut.2013.07.004_bib109","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/ni.1990","article-title":"IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses","volume":"12","author":"Krausgruber","year":"2011","journal-title":"Nature Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib110","doi-asserted-by":"crossref","first-page":"836485","DOI":"10.1155\/2012\/836485","article-title":"The effects of TLR activation on T-cell development and differentiation","volume":"2012","author":"Jin","year":"2012","journal-title":"Clinical & Developmental Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib111","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.0105-2896.2004.00211.x","article-title":"Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4","volume":"202","author":"Watford","year":"2004","journal-title":"Immunological Reviews"},{"key":"10.1016\/j.jaut.2013.07.004_bib112","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1161\/ATVBAHA.110.207464","article-title":"Suppressors of cytokine signaling (SOCS) proteins and JAK\/STAT pathways: regulation of T-cell inflammation by SOCS1 and SOCS3","volume":"31","author":"Tamiya","year":"2011","journal-title":"Arteriosclerosis Thrombosis and Vascular Biology"},{"key":"10.1016\/j.jaut.2013.07.004_bib113","doi-asserted-by":"crossref","first-page":"7374","DOI":"10.4049\/jimmunol.1001413","article-title":"Regulation of follicular B cell differentiation by the related E26 transformation-specific transcription factors PU.1, Spi-B, and Spi-C","volume":"185","author":"DeKoter","year":"2010","journal-title":"Journal of Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib114","doi-asserted-by":"crossref","first-page":"e27384","DOI":"10.1371\/journal.pone.0027384","article-title":"IRF8 governs expression of genes involved in innate and adaptive immunity in human and mouse germinal center B cells","volume":"6","author":"Shin","year":"2011","journal-title":"PloS One"},{"key":"10.1016\/j.jaut.2013.07.004_bib115","doi-asserted-by":"crossref","first-page":"7329","DOI":"10.1128\/MCB.23.20.7329-7338.2003","article-title":"Role of phospholipase C-L2, a novel phospholipase C-like protein that lacks lipase activity, in B-cell receptor signaling","volume":"23","author":"Takenaka","year":"2003","journal-title":"Molecular and Cellular Biology"},{"key":"10.1016\/j.jaut.2013.07.004_bib116","doi-asserted-by":"crossref","first-page":"4149","DOI":"10.1128\/MCB.00224-10","article-title":"Ikaros and Aiolos inhibit pre-B-cell proliferation by directly suppressing c-Myc expression","volume":"30","author":"Ma","year":"2010","journal-title":"Molecular and Cellular Biology"},{"key":"10.1016\/j.jaut.2013.07.004_bib117","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1084\/jem.20120994","article-title":"The origins, function, and regulation of T follicular helper cells","volume":"209","author":"Ma","year":"2012","journal-title":"The Journal of Experimental Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib118","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1126\/science.286.5445.1735","article-title":"Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity","volume":"286","author":"Bouillet","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jaut.2013.07.004_bib119","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/S1074-7613(02)00322-9","article-title":"Activated T cell death in\u00a0vivo mediated by proapoptotic bcl-2 family member bim","volume":"16","author":"Hildeman","year":"2002","journal-title":"Immunity"},{"key":"10.1016\/j.jaut.2013.07.004_bib120","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1471-2172-13-12","article-title":"Molecular pathway profiling of T lymphocyte signal transduction pathways; Th1 and Th2 genomic fingerprints are defined by TCR and CD28-mediated signaling","volume":"13","author":"Smeets","year":"2012","journal-title":"BMC Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib121","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.bbrc.2010.06.091","article-title":"Expression of functional GPR35 in human iNKT cells","volume":"398","author":"Fallarini","year":"2010","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"10.1016\/j.jaut.2013.07.004_bib122","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/gene.2011.88","article-title":"Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease","volume":"13","author":"Hauser","year":"2012","journal-title":"Genes and Immunity"},{"key":"10.1016\/j.jaut.2013.07.004_bib123","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/ng.434","article-title":"Cell-specific protein phenotypes for the autoimmune locus IL2RA using a\u00a0genotype-selectable human bioresource","volume":"41","author":"Dendrou","year":"2009","journal-title":"Nature Genetics"},{"key":"10.1016\/j.jaut.2013.07.004_bib124","doi-asserted-by":"crossref","first-page":"4782","DOI":"10.4049\/jimmunol.1001179","article-title":"Histone deacetylase 7 regulates cell survival and TCR signaling in CD4\/CD8 double-positive thymocytes","volume":"186","author":"Kasler","year":"2011","journal-title":"Journal of Immunology"},{"key":"10.1016\/j.jaut.2013.07.004_bib125","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S1074-7613(03)00109-2","article-title":"HDAC7, a thymus-specific class II histone deacetylase, regulates Nur77 transcription and TCR-mediated apoptosis","volume":"18","author":"Dequiedt","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.jaut.2013.07.004_bib126","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1084\/jem.20042034","article-title":"Phosphorylation of histone deacetylase 7 by protein kinase D mediates T cell receptor-induced Nur77 expression and apoptosis","volume":"201","author":"Dequiedt","year":"2005","journal-title":"The Journal of Experimental Medicine"},{"key":"10.1016\/j.jaut.2013.07.004_bib127","doi-asserted-by":"crossref","first-page":"e54406","DOI":"10.1371\/journal.pone.0054406","article-title":"Toll-Like receptor\u00a0ligands induce expression of the Costimulatory molecule CD155 on antigen-presenting cells","volume":"8","author":"Kamran","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.jaut.2013.07.004_bib128","doi-asserted-by":"crossref","first-page":"3869","DOI":"10.4049\/jimmunol.1103627","article-title":"The TIGIT\/CD226 axis regulates human T cell function","volume":"188","author":"Lozano","year":"2012","journal-title":"Journal of Immunology"}],"container-title":["Journal of Autoimmunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896841113000942?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896841113000942?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T08:07:34Z","timestamp":1760256454000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0896841113000942"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":128,"alternative-id":["S0896841113000942"],"URL":"https:\/\/doi.org\/10.1016\/j.jaut.2013.07.004","relation":{},"ISSN":["0896-8411"],"issn-type":[{"value":"0896-8411","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel insights into autoimmune liver diseases provided by genome-wide association studies","name":"articletitle","label":"Article Title"},{"value":"Journal of Autoimmunity","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaut.2013.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Ltd. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}