{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:21:56Z","timestamp":1788870116356,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,12,22]],"date-time":"2014-12-22T00:00:00Z","timestamp":1419206400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004442","name":"National Science Centre","doi-asserted-by":"crossref","award":["2012\/05\/N\/NZ5\/00848"],"award-info":[{"award-number":["2012\/05\/N\/NZ5\/00848"]}],"id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Warsaw Medical University","award":["1WN\/N\/14"],"award-info":[{"award-number":["1WN\/N\/14"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,10]]},"abstract":"Summary<\/jats:title>\n \n Background<\/jats:title>\n \n Despite great progress, the genetic basis of Graves' disease (\n GD<\/jats:styled-content>\n ) remains poorly understood. Recently, a population\u2010based genomewide association study (\n GWAS<\/jats:styled-content>\n ) identified five novel loci (\n \n ATXN<\/jats:styled-content>\n 2\/\n SH<\/jats:styled-content>\n 2B3,\n MAGI<\/jats:styled-content>\n 3,\n BACH<\/jats:styled-content>\n 2,\n TPO<\/jats:styled-content>\n <\/jats:italic>\n and\n \n KALRN<\/jats:styled-content>\n <\/jats:italic>\n ) as significantly associated with the presence of thyroid peroxidase autoantibodies (\n TPOA<\/jats:styled-content>\n bs), whereas several other loci showed suggestive association.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n In this study, we investigated 16 single nucleotide polymorphisms (\n SNP<\/jats:styled-content>\n s) associated with\n TPOA<\/jats:styled-content>\n bs for the association with susceptibility to and phenotype of\n GD<\/jats:styled-content>\n in a cohort of 647 patients with\n GD<\/jats:styled-content>\n and 769 controls from a Polish Caucasian population.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n SNP<\/jats:styled-content>\n s within\/near\n \n HCP<\/jats:styled-content>\n 5\n <\/jats:italic>\n (rs3094228,\n P\u00a0<\/jats:italic>\n =\n \u00a0<\/jats:italic>\n 1\u00b76\u00a0\u00d7\u00a010\n \u221212<\/jats:sup>\n ,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b788),\n \n MAGI<\/jats:styled-content>\n 3\n <\/jats:italic>\n (rs1230666,\n P\u00a0=\u00a0<\/jats:italic>\n 1\u00b79\u00a0\u00d7\u00a010\n \u22125<\/jats:sup>\n ,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b751) and\n \n ATXN<\/jats:styled-content>\n 2\/\n SH<\/jats:styled-content>\n 2B3\n <\/jats:italic>\n (rs653178,\n P\u00a0=\u00a0<\/jats:italic>\n 0\u00b70015,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b728) loci were significantly associated with susceptibility to\n GD<\/jats:styled-content>\n . Allele frequencies differed significantly in subgroups of patients with\n GD<\/jats:styled-content>\n stratified by age of\n GD<\/jats:styled-content>\n onset for\n \n HCP<\/jats:styled-content>\n 5\n <\/jats:italic>\n (\n P\u00a0=\u00a0<\/jats:italic>\n 0\u00b70014,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b750) and showed a suggestive difference for\n \n MAGI<\/jats:styled-content>\n 3\n <\/jats:italic>\n (\n P\u00a0=\u00a0<\/jats:italic>\n 0\u00b70035,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b750)\n SNP<\/jats:styled-content>\n s. Although rs11675434 located near\n \n TPO<\/jats:styled-content>\n <\/jats:italic>\n showed no association with\n GD<\/jats:styled-content>\n susceptibility, it was significantly associated with the presence of clinically evident Graves' ophthalmopathy (\n GO<\/jats:styled-content>\n ,\n P\u00a0=\u00a0<\/jats:italic>\n 5\u00b72\u00a0\u00d7\u00a010\n \u22125<\/jats:sup>\n ,\n OR<\/jats:styled-content>\n \u00a0=\u00a01\u00b764), and this effect was independent from smoking status, age of\n GD<\/jats:styled-content>\n onset and gender.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This is the first study showing an association of the\n \n ATXN<\/jats:styled-content>\n 2\/\n SH<\/jats:styled-content>\n 2B3\n <\/jats:italic>\n locus with susceptibility to\n GD<\/jats:styled-content>\n . Furthermore, we observed a novel significant association within the\n \n HLA<\/jats:styled-content>\n <\/jats:italic>\n region at a\n SNP<\/jats:styled-content>\n located near\n \n HCP<\/jats:styled-content>\n 5\n <\/jats:italic>\n and confirmed the association of the\n \n MAGI<\/jats:styled-content>\n 3\n <\/jats:italic>\n locus with\n GD<\/jats:styled-content>\n susceptibility.\n \n HCP<\/jats:styled-content>\n 5\n <\/jats:italic>\n and\n \n MAGI<\/jats:styled-content>\n 3\n <\/jats:italic>\n SNP<\/jats:styled-content>\n s were further correlated with age of\n GD<\/jats:styled-content>\n onset. Finally, we identified\n \n TPO<\/jats:styled-content>\n <\/jats:italic>\n as a new susceptibility locus for\n GO<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cen.12640","type":"journal-article","created":{"date-parts":[[2014,10,24]],"date-time":"2014-10-24T23:57:09Z","timestamp":1414195029000},"page":"556-562","source":"Crossref","is-referenced-by-count":27,"title":["The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease"],"prefix":"10.1111","volume":"83","author":[{"given":"Aleksander","family":"Ku\u015b","sequence":"first","affiliation":[{"name":"Department of Internal Medicine and Endocrinology Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Szyma\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre for Biostructure Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin P.","family":"Peeters","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Mi\u015bkiewicz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Endocrinology Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Porcu","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica (IRGB) Consiglio Nazionale delle Ricerche c\/o Cittadella Universitaria di Monserrato Monserrato Cagliari Italy"},{"name":"Dipartimento di Scienze Biomediche Universita di Sassari Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Pistis","sequence":"additional","affiliation":[{"name":"Istituto di 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