{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:35:07Z","timestamp":1779932107160,"version":"3.53.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T00:00:00Z","timestamp":1336608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T00:00:00Z","timestamp":1336608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.1038\/gene.2012.17","type":"journal-article","created":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T05:10:34Z","timestamp":1336626634000},"page":"461-468","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Classical HLA-DRB1 and DPB1 alleles account for HLA associations with primary biliary cirrhosis"],"prefix":"10.1038","volume":"13","author":[{"given":"P","family":"Invernizzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Ransom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Raychaudhuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Kosoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lleo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Shigeta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Franke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Bossa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C I","family":"Amos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P K","family":"Gregersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K A","family":"Siminovitch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Cusi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P I W","family":"de Bakker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Podda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Gershwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M F","family":"Seldin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Italian PBC Genetics Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,5,10]]},"reference":[{"key":"BFgene201217_CR1","doi-asserted-by":"publisher","first-page":"2544","DOI":"10.1056\/NEJMoa0810440","volume":"360","author":"GM Hirschfield","year":"2009","unstructured":"Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544\u20132555.","journal-title":"N Engl J Med"},{"key":"BFgene201217_CR2","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1038\/ng.627","volume":"42","author":"X Liu","year":"2010","unstructured":"Liu X, Invernizzi P, Lu Y, Kosoy R, Lu Y, Bianchi I et al. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nat Genet 2010; 42: 658\u2013660.","journal-title":"Nat Genet"},{"key":"BFgene201217_CR3","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1038\/ng.789","volume":"43","author":"GF Mells","year":"2011","unstructured":"Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS, Shin SY et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet 2011; 43: 329\u2013332.","journal-title":"Nat Genet"},{"key":"BFgene201217_CR4","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1002\/hep.24414","volume":"54","author":"P Invernizzi","year":"2011","unstructured":"Invernizzi P . Human leukocyte antigen in primary biliary cirrhosis: an old story now reviving. Hepatology 2011; 54: 714\u2013723.","journal-title":"Hepatology"},{"key":"BFgene201217_CR5","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1002\/hep.21316","volume":"44","author":"PT Donaldson","year":"2006","unstructured":"Donaldson PT, Baragiotta A, Heneghan MA, Floreani A, Venturi C, Underhill JA et al. HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. Hepatology 2006; 44: 667\u2013674.","journal-title":"Hepatology"},{"key":"BFgene201217_CR6","doi-asserted-by":"publisher","first-page":"1906","DOI":"10.1002\/hep.22567","volume":"48","author":"P Invernizzi","year":"2008","unstructured":"Invernizzi P, Selmi C, Poli F, Frison S, Floreani A, Alvaro D et al. Human leukocyte antigen polymorphisms in italian primary biliary cirrhosis: a multicenter study of 664 patients and 1992 healthy controls. Hepatology 2008; 48: 1906\u20131912.","journal-title":"Hepatology"},{"key":"BFgene201217_CR7","first-page":"398","volume":"21","author":"JG Mella","year":"1995","unstructured":"Mella JG, Roschmann E, Maier KP, Volk BA . Association of primary biliary cirrhosis with the allele HLA-DPB1*0301 in a German population. Hepatology 1995; 21: 398\u2013402.","journal-title":"Hepatology"},{"key":"BFgene201217_CR8","doi-asserted-by":"publisher","first-page":"1551","DOI":"10.1126\/science.1195271","volume":"330","author":"F Pereyra","year":"2010","unstructured":"Pereyra F, Jia X, McLaren PJ, Telenti A, de Bakker PI, Walker BD et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 2010; 330: 1551\u20131557.","journal-title":"Science"},{"key":"BFgene201217_CR9","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1186\/ar3204","volume":"13","author":"A Cortes","year":"2011","unstructured":"Cortes A, Brown MA . Promise and pitfalls of the Immunochip. Arthritis Res Ther 2011; 13: 101.","journal-title":"Arthritis Res Ther"},{"key":"BFgene201217_CR10","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1038\/ng1885","volume":"38","author":"PI de Bakker","year":"2006","unstructured":"de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006; 38: 1166\u20131172.","journal-title":"Nat Genet"},{"key":"BFgene201217_CR11","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1093\/genetics\/152.1.393","volume":"152","author":"H Salamon","year":"1999","unstructured":"Salamon H, Klitz W, Easteal S, Gao X, Erlich HA, Fernandez-Vina M et al. Evolution of HLA class II molecules: Allelic and amino acid site variability across populations. Genetics 1999; 152: 393\u2013400.","journal-title":"Genetics"},{"key":"BFgene201217_CR12","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1093\/hmg\/ddp521","volume":"19","author":"DR Karp","year":"2010","unstructured":"Karp DR, Marthandan N, Marsh SG, Ahn C, Arnett FC, Deluca DS et al. Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis. Hum Mol Genet 2010; 19: 707\u2013719.","journal-title":"Hum Mol Genet"},{"key":"BFgene201217_CR13","doi-asserted-by":"publisher","first-page":"15464","DOI":"10.1073\/pnas.0406756101","volume":"101","author":"C Vandiedonck","year":"2004","unstructured":"Vandiedonck C, Beaurain G, Giraud M, Hue-Beauvais C, Eymard B, Tranchant C et al. Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia. Proc Natl Acad Sci USA 2004; 101: 15464\u201315469.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFgene201217_CR14","doi-asserted-by":"publisher","first-page":"2972","DOI":"10.2337\/db10-0699","volume":"59","author":"JA Noble","year":"2010","unstructured":"Noble JA, Valdes AM, Varney MD, Carlson JA, Moonsamy P, Fear AL et al. HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium. Diabetes 2010; 59: 2972\u20132979.","journal-title":"Diabetes"},{"key":"BFgene201217_CR15","doi-asserted-by":"publisher","first-page":"1422","DOI":"10.1177\/1352458509345905","volume":"15","author":"XM Wu","year":"2009","unstructured":"Wu XM, Wang C, Zhang KN, Lin AY, Kira J, Hu GZ et al. Association of susceptibility to multiple sclerosis in Southern Han Chinese with HLA-DRB1, -DPB1 alleles and DRB1-DPB1 haplotypes: distinct from other populations. Mult Scler 2009; 15: 1422\u20131430.","journal-title":"Mult Scler"},{"key":"BFgene201217_CR16","doi-asserted-by":"publisher","first-page":"e13454","DOI":"10.1371\/journal.pone.0013454","volume":"5","author":"J Field","year":"2010","unstructured":"Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD et al. A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One 2010; 5: e13454.","journal-title":"PLoS One"},{"key":"BFgene201217_CR17","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/sj.gene.6364129","volume":"5","author":"JA Runstadler","year":"2004","unstructured":"Runstadler JA, Saila H, Savolainen A, Leirisalo-Repo M, Aho K, Tuomilehto-Wolf E et al. HLA-DRB1, TAP2\/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: more complexity within the MHC. Genes Immun 2004; 5: 562\u2013571.","journal-title":"Genes Immun"},{"key":"BFgene201217_CR18","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.2337\/db09-0680","volume":"59","author":"MD Varney","year":"2010","unstructured":"Varney MD, Valdes AM, Carlson JA, Noble JA, Tait BD, Bonella P et al. HLA DPA1, DPB1 alleles and haplotypes contribute to the risk associated with type 1 diabetes: analysis of the type 1 diabetes genetics consortium families. Diabetes 2010; 59: 2055\u20132062.","journal-title":"Diabetes"},{"key":"BFgene201217_CR19","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/gene.2009.101","volume":"11","author":"L Bergamaschi","year":"2010","unstructured":"Bergamaschi L, Leone MA, Fasano ME, Guerini FR, Ferrante D, Bolognesi E et al. HLA-class I markers and multiple sclerosis susceptibility in the Italian population. Genes Immun 2010; 11: 173\u2013180.","journal-title":"Genes Immun"},{"key":"BFgene201217_CR20","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1191\/0961203303lu402oa","volume":"12","author":"GD Sebastiani","year":"2003","unstructured":"Sebastiani GD, Galeazzi M, Tincani A, Scorza R, Mathieu A, Passiu G et al. HLA-DPB1 alleles association of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus. Lupus 2003; 12: 560\u2013563.","journal-title":"Lupus"},{"key":"BFgene201217_CR21","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1002\/hep.24705","volume":"55","author":"T Umemura","year":"2012","unstructured":"Umemura T, Joshita S, Ichijo T, Yoshizawa K, Katsuyama Y, Tanaka E et al. Human leukocyte antigen class II molecules confer both susceptibility and progression in Japanese patients with primary biliary cirrhosis. Hepatology 2012; 55: 506\u2013511.","journal-title":"Hepatology"},{"key":"BFgene201217_CR22","doi-asserted-by":"crossref","first-page":"3525","DOI":"10.4049\/jimmunol.138.10.3525","volume":"138","author":"ME Gershwin","year":"1987","unstructured":"Gershwin ME, Mackay IR, Sturgess A, Coppel RL . Identification and specificity of a cDNA encoding the 70 kd mitochondrial antigen recognized in primary biliary cirrhosis. J Immunol 1987; 138: 3525\u20133531.","journal-title":"J Immunol"},{"key":"BFgene201217_CR23","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1002\/hep.23783","volume":"52","author":"A Lleo","year":"2010","unstructured":"Lleo A, Bowlus CL, Yang GX, Invernizzi P, Podda M, Van de Water J et al. Biliary apotopes and anti-mitochondrial antibodies activate innate immune responses in primary biliary cirrhosis. Hepatology 2010; 52: 987\u2013998.","journal-title":"Hepatology"},{"key":"BFgene201217_CR24","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559\u2013575.","journal-title":"Am J Hum Genet"},{"key":"BFgene201217_CR25","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1093\/genetics\/164.4.1567","volume":"164","author":"D Falush","year":"2003","unstructured":"Falush D, Stephens M, Pritchard JK . Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 2003; 164: 1567\u20131587.","journal-title":"Genetics"},{"key":"BFgene201217_CR26","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1002\/humu.20822","volume":"30","author":"R Kosoy","year":"2009","unstructured":"Kosoy R, Nassir R, Tian C, White PA, Butler LM, Silva G et al. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat 2009; 30: 69\u201378.","journal-title":"Hum Mutat"},{"key":"BFgene201217_CR27","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D . Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904\u2013909.","journal-title":"Nat Genet"},{"key":"BFgene201217_CR28","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1038\/nrg2796","volume":"11","author":"J Marchini","year":"2010","unstructured":"Marchini J, Howie B . Genotype imputation for genome-wide association studies. Nat Rev Genet 2010; 11: 499\u2013511.","journal-title":"Nat Rev Genet"},{"key":"BFgene201217_CR29","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/j.1463-1326.2008.00997.x","volume":"11","author":"WM Brown","year":"2009","unstructured":"Brown WM, Pierce J, Hilner JE, Perdue LH, Lohman K, Li L et al. Overview of the MHC fine mapping data. Diabetes, obesity & metabolism 2009; 11: 2\u20137.","journal-title":"Diabetes, obesity & metabolism"},{"key":"BFgene201217_CR30","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1016\/j.ajhg.2009.01.005","volume":"84","author":"BL Browning","year":"2009","unstructured":"Browning BL, Browning SR . A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet 2009; 84: 210\u2013223.","journal-title":"Am J Hum Genet"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene201217.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201217","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201217.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T12:24:26Z","timestamp":1687436666000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene201217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,10]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["BFgene201217"],"URL":"https:\/\/doi.org\/10.1038\/gene.2012.17","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,10]]},"assertion":[{"value":"21 February 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 March 2012","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 April 2012","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2012","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}