{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:08:45Z","timestamp":1790291325146,"version":"4.1.0"},"reference-count":59,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T00:00:00Z","timestamp":1699920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian National Health and Medical Research Council","award":["1087407"],"award-info":[{"award-number":["1087407"]}]},{"name":"Australian National Health and Medical Research Council","award":["MRGP21-22_11"],"award-info":[{"award-number":["MRGP21-22_11"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Autoimmune thyroid disease (AITD) includes Graves disease (GD) and Hashimoto disease (HD), which often run in the same family. AITD etiology is incompletely understood: Genetic factors may account for up to 75% of phenotypic variance, whereas epigenetic effects (including DNA methylation [DNAm]) may contribute to the remaining variance (eg, why some individuals develop GD and others HD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This work aimed to identify differentially methylated positions (DMPs) and differentially methylated regions (DMRs) comparing GD to HD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Whole-blood DNAm was measured across the genome using the Infinium MethylationEPIC array in 32 Australian patients with GD and 30 with HD (discovery cohort) and 32 Danish patients with GD and 32 with HD (replication cohort). Linear mixed models were used to test for differences in quantile-normalized \u03b2 values of DNAm between GD and HD and data were later meta-analyzed. Comb-p software was used to identify DMRs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified epigenome-wide significant differences (P &amp;lt; 9E-8) and replicated (P &amp;lt; .05) 2 DMPs between GD and HD (cg06315208 within MDC1 and cg00049440 within KLF9). We identified and replicated a DMR within CUTA (5 CpGs at 6p21.32). We also identified 64 DMPs and 137 DMRs in the meta-analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our study reveals differences in DNAm between GD and HD, which may help explain why some people develop GD and others HD and provide a link to environmental risk factors. Additional research is needed to advance understanding of the role of DNAm in AITD and investigate its prognostic and therapeutic potential.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad659","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T18:42:45Z","timestamp":1699987365000},"page":"992-999","source":"Crossref","is-referenced-by-count":5,"title":["Epigenome-wide Association Study Shows Differential DNA Methylation of <i>MDC1<\/i>, <i>KLF9<\/i>, and <i>CUTA<\/i> in Autoimmune Thyroid Disease"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7101-2058","authenticated-orcid":false,"given":"Nicole","family":"Lafontaine","sequence":"first","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"},{"name":"Medical School, University of Western Australia , Crawley, WA, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9781-1015","authenticated-orcid":false,"given":"Christopher J","family":"Shore","sequence":"additional","affiliation":[{"name":"Department of Twin Research & Genetic Epidemiology, King's College London , London, SE1 7EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5727-4323","authenticated-orcid":false,"given":"Purdey J","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0743-770X","authenticated-orcid":false,"given":"Benjamin H","family":"Mullin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"},{"name":"School of Biomedical Sciences, University of Western Australia , Perth, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8413-561X","authenticated-orcid":false,"given":"Suzanne J","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1551-8411","authenticated-orcid":false,"given":"Vijay","family":"Panicker","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"},{"name":"Medical School, University of Western Australia , Crawley, WA, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8817-8908","authenticated-orcid":false,"given":"Frank","family":"Dudbridge","sequence":"additional","affiliation":[{"name":"Population Health Sciences, University of Leicester , Leicester, LE1 7RH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2327-531X","authenticated-orcid":false,"given":"Thomas H","family":"Brix","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Odense University Hospital , Odense, 5000 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9691-7619","authenticated-orcid":false,"given":"Laszlo","family":"Heged\u00fcs","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Odense University Hospital , Odense, 5000 , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0357-1373","authenticated-orcid":false,"given":"Scott G","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 , Australia"},{"name":"Department of Twin Research & Genetic Epidemiology, King's College London , London, SE1 7EH , UK"},{"name":"School of Biomedical Sciences, University of Western Australia , Perth, 6009 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3858-5986","authenticated-orcid":false,"given":"Jordana T","family":"Bell","sequence":"additional","affiliation":[{"name":"Department of Twin Research & Genetic Epidemiology, King's College London , London, SE1 7EH , 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