{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:00:46Z","timestamp":1783483246092,"version":"3.55.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"17","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,9,1]]},"DOI":"10.1093\/hmg\/ddr247","type":"journal-article","created":{"date-parts":[[2011,6,3]],"date-time":"2011-06-03T22:35:08Z","timestamp":1307140508000},"page":"3415-3423","source":"Crossref","is-referenced-by-count":66,"title":["Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance"],"prefix":"10.1093","volume":"20","author":[{"given":"Roger","family":"Colobran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Pilar","family":"Armengol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Faner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"G\u00e4rtner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars-Oliver","family":"Tykocinski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manel","family":"Juan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Kyewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Pujol-Borrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2011,6,3]]},"reference":[{"key":"key\n\t\t\t\t20170522133924_DDR247C1","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1089\/thy.2007.0170","article-title":"The thyrotropin receptor in Graves' disease","volume":"17","author":"Rapoport","year":"2007","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t20170522133924_DDR247C2","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.jaut.2007.11.010","article-title":"The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology","volume":"30","author":"Jacobson","year":"2008","journal-title":"J. Autoimmun."},{"key":"key\n\t\t\t\t20170522133924_DDR247C3","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jaut.2007.02.006","article-title":"The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future","volume":"28","author":"Jacobson","year":"2007","journal-title":"J. Autoimmun."},{"key":"key\n\t\t\t\t20170522133924_DDR247C4","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1111\/j.1365-2265.2007.02762.x","article-title":"Association of the interleukin-2 receptor alpha (IL-2Ralpha)\/CD25 gene region with Graves' disease using a multilocus test and tag SNPs","volume":"66","author":"Brand","year":"2007","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"key\n\t\t\t\t20170522133924_DDR247C5","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1093\/hmg\/ddp087","article-title":"Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease (GD)","volume":"18","author":"Brand","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522133924_DDR247C6","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1089\/thy.2008.0098","article-title":"Influence of the TSH receptor gene on susceptibility to Graves' disease and Graves' ophthalmopathy","volume":"18","author":"Yin","year":"2008","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t20170522133924_DDR247C7","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1038\/sj.ejhg.5201485","article-title":"Association of the TSHR gene with Graves' disease: the first disease specific locus","volume":"13","author":"Dechairo","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522133924_DDR247C8","doi-asserted-by":"crossref","first-page":"5918","DOI":"10.4049\/jimmunol.161.11.5918","article-title":"Transcription of a broad range of self-antigens in human thymus suggests a role for central mechanisms in tolerance toward peripheral antigens","volume":"161","author":"Sospedra","year":"1998","journal-title":"J. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1749-6632.2009.05129.x","article-title":"Development of thymically derived natural regulatory T cells","volume":"1183","author":"Bettini","year":"2010","journal-title":"Ann. NY Acad. Sci."},{"key":"key\n\t\t\t\t20170522133924_DDR247C10","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ni723","article-title":"Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self","volume":"2","author":"Derbinski","year":"2001","journal-title":"Nat. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C11","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1084\/jem.20031677","article-title":"Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes colocalized in chromosomal clusters","volume":"199","author":"Gotter","year":"2004","journal-title":"J. Exp. Med."},{"key":"key\n\t\t\t\t20170522133924_DDR247C12","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1146\/annurev.immunol.23.021704.115601","article-title":"A central role for central tolerance","volume":"24","author":"Kyewski","year":"2006","journal-title":"Annu. Rev. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C13","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.0105-2896.2005.00253.x","article-title":"Genetic lesions in T-cell tolerance and thresholds for autoimmunity","volume":"204","author":"Liston","year":"2005","journal-title":"Immunol. Rev."},{"key":"key\n\t\t\t\t20170522133924_DDR247C14","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0397-289","article-title":"Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus","volume":"15","author":"Vafiadis","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522133924_DDR247C15","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/ng0397-293","article-title":"The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes","volume":"15","author":"Pugliese","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522133924_DDR247C16","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/nature06066","article-title":"An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus","volume":"448","author":"Giraud","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522133924_DDR247C17","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1101\/gr.6028507","article-title":"Accurate quantitation of allele-specific expression patterns by analysis of DNA melting","volume":"17","author":"Jeong","year":"2007","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170522133924_DDR247C18","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1073\/pnas.0707486105","article-title":"Promiscuous gene expression patterns in single medullary thymic epithelial cells argue for a stochastic mechanism","volume":"105","author":"Derbinski","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522133924_DDR247C19","doi-asserted-by":"crossref","first-page":"15854","DOI":"10.1073\/pnas.0808069105","article-title":"Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated","volume":"105","author":"Villase\u00f1or","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522133924_DDR247C20","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1126\/science.1075958","article-title":"Projection of an immunological self shadow within the thymus by the aire protein","volume":"298","author":"Anderson","year":"2002","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522133924_DDR247C21","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1084\/jem.20050471","article-title":"Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels","volume":"202","author":"Derbinski","year":"2005","journal-title":"J. Exp. Med."},{"key":"key\n\t\t\t\t20170522133924_DDR247C22","doi-asserted-by":"crossref","first-page":"2781","DOI":"10.1016\/S0024-3205(01)01077-3","article-title":"Expression of thyrotropin receptors in rat thymus","volume":"68","author":"Murakami","year":"2001","journal-title":"Life Sci."},{"key":"key\n\t\t\t\t20170522133924_DDR247C23","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/nrendo.2010.200","article-title":"The role of AIRE in human autoimmune disease","volume":"7","author":"Akirav","year":"2011","journal-title":"Nat. Rev. Endocrinol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C24","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1002\/eji.200636962","article-title":"Highly variable expression of tissue-restricted self-antigens in human thymus: implications for self-tolerance and autoimmunity","volume":"37","author":"Taubert","year":"2007","journal-title":"Eur. J. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C25","doi-asserted-by":"crossref","first-page":"2948","DOI":"10.1210\/en.2008-1690","article-title":"Studies in mice deficient for the autoimmune regulator (Aire) and transgenic for the thyrotropin receptor reveal a role for Aire in tolerance for thyroid autoantigens","volume":"150","author":"Misharin","year":"2009","journal-title":"Endocrinology"},{"key":"key\n\t\t\t\t20170522133924_DDR247C26","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0002-9343(88)90516-5","article-title":"Immunoglobulins that cause thymocyte proliferation from a patient with Graves' disease and an enlarged thymus","volume":"85","author":"Wortsman","year":"1988","journal-title":"Am. J. Med."},{"key":"key\n\t\t\t\t20170522133924_DDR247C27","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1172\/JCI119032","article-title":"Thymic hyperplasia in patients with Graves' disease. Identification of thyrotropin receptors in human thymus","volume":"98","author":"Murakami","year":"1996","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522133924_DDR247C28","first-page":"1589","article-title":"Thyroid transcription factor 1 activates the promoter of the thyrotropin receptor gene","volume":"7","author":"Civitareale","year":"1993","journal-title":"Mol. Endocrinol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C29","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1042\/bj3100491","article-title":"Synergistic transcriptional activation of the thyrotropin receptor promoter by cyclic AMP-responsive-element-binding protein and thyroid transcription factor 1","volume":"310","author":"Saiardi","year":"1995","journal-title":"Biochem. J."},{"key":"key\n\t\t\t\t20170522133924_DDR247C30","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1089\/105072503322238773","article-title":"Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins","volume":"13","author":"Ho","year":"2003","journal-title":"Thyroid"},{"key":"key\n\t\t\t\t20170522133924_DDR247C31","doi-asserted-by":"crossref","first-page":"e15512","DOI":"10.1371\/journal.pone.0015512","article-title":"Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts","volume":"5","author":"P\u0142oski","year":"2010","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522133924_DDR247C32","article-title":"Probing gene function in thymic epithelial cells","author":"Aichinger","year":"2011","journal-title":"Eur. J. Cell. Biol."},{"issue":"Suppl. 2","key":"key\n\t\t\t\t20170522133924_DDR247C33","doi-asserted-by":"crossref","first-page":"S18","DOI":"10.2337\/diabetes.54.suppl_2.S18","article-title":"Class III alleles at the insulin VNTR polymorphism are associated with regulatory T-cell responses to proinsulin epitopes in HLA-DR4, DQ8 individuals","volume":"54","author":"Durinovic-Bell\u00f3","year":"2005","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20170522133924_DDR247C34","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ygcen.2005.02.004","article-title":"Effects of thyroid hormone on the development of immune system in zebrafish","volume":"142","author":"Lam","year":"2005","journal-title":"Gen. Comp. Endocrinol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C35","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1111\/j.1749-6632.1998.tb09574.x","article-title":"Thymic endocrinology","volume":"840","author":"Hadden","year":"1998","journal-title":"Ann. NY Acad. Sci."},{"key":"key\n\t\t\t\t20170522133924_DDR247C36","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1084\/jem.20082449","article-title":"The thymic medulla: a unique microenvironment for intercellular self-antigen transfer","volume":"206","author":"Koble","year":"2009","journal-title":"J. Exp. Med."},{"key":"key\n\t\t\t\t20170522133924_DDR247C37","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1084\/jem.184.4.1573","article-title":"Self major histocompatibility complex class I antigens expressed solely in lymphoid cells do not induce tolerance in the CD4+ T cell compartment","volume":"184","author":"Schulz","year":"1996","journal-title":"J. Exp. Med."},{"key":"key\n\t\t\t\t20170522133924_DDR247C38","doi-asserted-by":"crossref","first-page":"4851","DOI":"10.4049\/jimmunol.163.9.4851","article-title":"Thymocyte antigens do not induce tolerance in the CD4+ T cell compartment","volume":"163","author":"Jhaver","year":"1999","journal-title":"J. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C39","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1038\/nri2669","article-title":"Antigen presentation in the thymus for positive selection and central tolerance induction","volume":"9","author":"Klein","year":"2009","journal-title":"Nat. Rev. Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C40","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.it.2008.03.004","article-title":"Death in the AIRE","volume":"29","author":"Ferguson","year":"2008","journal-title":"Trends Immunol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C41","doi-asserted-by":"crossref","first-page":"19426","DOI":"10.1073\/pnas.1009265107","article-title":"Epigenetic regulation of promiscuous gene expression in thymic medullary epithelial cells","volume":"107","author":"Tykocinski","year":"2010","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522133924_DDR247C42","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1172\/JCI200317069","article-title":"The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim","volume":"111","author":"Chen","year":"2003","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522133924_DDR247C43","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.mce.2010.01.013","article-title":"Genetics of thyroid autoimmunity and the role of the TSHR","volume":"322","author":"Brand","year":"2010","journal-title":"Mol. Cell. Endocrinol."},{"key":"key\n\t\t\t\t20170522133924_DDR247C44","doi-asserted-by":"crossref","first-page":"2898","DOI":"10.1210\/jc.2004-2148","article-title":"Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease","volume":"90","author":"Hiratani","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"key\n\t\t\t\t20170522133924_DDR247C45","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1093\/bioinformatics\/btl268","article-title":"SNPStats: a web tool for the analysis of association studies","volume":"22","author":"Sol\u00e9","year":"2006","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170522133924_DDR247C46","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"Barrett","year":"2005","journal-title":"Bioinformatics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article\/20\/17\/3415\/2527060\/Association-of-an-SNP-with-intrathymic","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,7]],"date-time":"2024-04-07T05:28:23Z","timestamp":1712467703000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddr247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,3]]},"references-count":46,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2011,6,3]]},"published-print":{"date-parts":[[2011,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddr247","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.11281956.12277054","asserted-by":"object"}]},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6,3]]}}}