{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T19:04:53Z","timestamp":1783364693903,"version":"3.54.6"},"reference-count":15,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["075-15-2022-304"],"award-info":[{"award-number":["075-15-2022-304"]}]},{"name":"World-Class Research Center \u2018Digital biodesign and personalized healthcare","award":["075-15-2022-304"],"award-info":[{"award-number":["075-15-2022-304"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Possible triggers and genetic markers involved in pathogenesis of amiodarone-induced thyrotoxicosis (AIT) or amiodarone-induced hypothyroidism (AIH) are currently unknown. This study aimed to analyze the association between polymorphisms in the genes involved in thyroid hormones biosynthesis and metabolism. Thirty-nine consecutive patients with confirmed type 2 amiodarone-induced thyrotoxicosis were enrolled; 39 patients on the same therapy for at least 6 months without thyroid pathology were included as a control group. A comparative study was carried out to determine the distribution and genotypes of polymorphic markers of the (Na)-iodide symporter (NIS) genes (rs7250346, C\/G substitution), thyroid stimulating hormone receptor (TSHR) (rs1991517, C\/G substitution), thyroid peroxidase (TPO) (rs 732609, A\/C substitution), DUOX 1-1 (C\/T substitution), DUOX 1-2 (G\/T substitution), DUOX 1-3 (C\/T substitution), glutathione peroxidase 3 (GPX3) (C\/T substitution), glutathione peroxidase 4 (GPX4) (C\/T substitution). Statistical analysis was performed using Prism (Version 9.0.0 (86)). This study showed that the risk of AIT2 is 3.18 times higher in the G\/T of the DUOX1 gene carriers. This study is the first report of genetic markers associated with amiodarone-related adverse events conducted in humans. The obtained results indicate the necessity for a personalized approach to amiodarone administration.<\/jats:p>","DOI":"10.3390\/ijms24044016","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T01:59:24Z","timestamp":1676599164000},"page":"4016","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis"],"prefix":"10.3390","volume":"24","author":[{"given":"Olga","family":"Biakina","sequence":"first","affiliation":[{"name":"Department of Cardiology, Functional and Ultrasound Diagnostics of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3742-7959","authenticated-orcid":false,"given":"Yulia","family":"Mitina","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Physiology, School of Biomedical Sciences, University of Melbourne, Melbourne 3010, Australia"},{"name":"Murdoch Children\u2019s Research Institute, Melbourne 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Gognieva","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Functional and Ultrasound Diagnostics of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"},{"name":"World-Class Research Center \u00abDigital Biodesign and Personalized Healthcare\u00bb, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Axenova","sequence":"additional","affiliation":[{"name":"Federal State Organization \u201cCentre for Strategic Planning and Management of Biomedical Health Risks\u201d, Ministry of Health of the Russian Federation, 119121 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6471-8252","authenticated-orcid":false,"given":"Alexandra","family":"Ermolaeva","sequence":"additional","affiliation":[{"name":"Department of Endocrinology No. 1 of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afina","family":"Bestavashvili","sequence":"additional","affiliation":[{"name":"World-Class Research Center \u00abDigital Biodesign and Personalized Healthcare\u00bb, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentin","family":"Fadeev","sequence":"additional","affiliation":[{"name":"Department of Endocrinology No. 1 of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abram","family":"Syrkin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Functional and Ultrasound Diagnostics of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Kopylov","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Functional and Ultrasound Diagnostics of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"},{"name":"World-Class Research Center \u00abDigital Biodesign and Personalized Healthcare\u00bb, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1055\/a-0577-7574","article-title":"Amiodarone-Induced Thyroid Dysfunction: A Clinical Update","volume":"126","author":"Elnaggar","year":"2018","journal-title":"Exp. Clin. Endocrinol. Diabetes"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.amjmed.2004.11.028","article-title":"Amiodarone and the thyroid","volume":"118","author":"Basaria","year":"2005","journal-title":"Am. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/j.1365-2265.2011.04087.x","article-title":"Determinants and outcome of amioda-rone-associated thyroid dysfunction","volume":"75","author":"Ahmed","year":"2011","journal-title":"Clin. 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Endocrinol."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/4\/4016\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:38:22Z","timestamp":1760121502000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/4\/4016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,16]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["ijms24044016"],"URL":"https:\/\/doi.org\/10.3390\/ijms24044016","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,16]]}}}