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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">transmed</journal-id><journal-title-group><journal-title xml:lang="ru">Трансляционная медицина</journal-title><trans-title-group xml:lang="en"><trans-title>Translational Medicine</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2311-4495</issn><issn pub-type="epub">2410-5155</issn><publisher><publisher-name>Almazov National Medical Research Centre, Saint Petersburg, Russia</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18705/2311-4495-2022-9-4-62-73</article-id><article-id custom-type="elpub" pub-id-type="custom">transmed-736</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ЭНДОКРИНОЛОГИЧЕСКИЕ ЗАБОЛЕВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>METABOLIC DISEASES</subject></subj-group></article-categories><title-group><article-title>Ассоциация между однонуклеотидными полиморфизмами rs2200733 и rs10033464 на хромосоме 4q25 и тиреотоксической фибрилляцией предсердий</article-title><trans-title-group xml:lang="en"><trans-title>Association between single nucleotide polymorphisms rs2200733 and rs10033464 at chromosome 4q25 and thyrotoxic atrial fibrillation</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пономарцева</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Ponomartseva</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Пономарцева Дарья Александровна,  врач-эндокринолог, эндокринологическое отделение </p><p>ул. Аккуратова, д. 2, Санкт-Петербург, 197341</p></bio><bio xml:lang="en"><p>Daria A. Ponomartseva,  endocrinologist of endocrine department </p><p>Akkuratova str. 2, Saint Petersburg, 197341 </p></bio><email xlink:type="simple">savitskayadaria@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хушкина</surname><given-names>А. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Hushkina</surname><given-names>A. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Хушкина Анастасия Юрьевна, врач-кардиолог, кардиологическое отделение с палатой реанимации и интенсивной терапии для больных с острым коронарным синдромом, региональный сосудистый центр </p><p>Курск</p></bio><bio xml:lang="en"><p>Anastasiya Yu. Hushkina, cardiologist of the cardiology department with intensive care unit for patients with acute coronary syndrome, regional vascular center </p><p>Kursk</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Костарева</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kostareva</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Костарева Анна Александровна, д.м.н., доцент кафедры внутренних болезней Института медицинского образования, директор Института молекулярной биологии и генетики </p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Anna A. Kostareva, MD, PhD, assistant professor, institute of medical education, director of the Institute of Molecular Biology and Genetics </p><p>Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бабенко</surname><given-names>А. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Babenko</surname><given-names>A. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бабенко Алина Юрьевна, д.м.н., профессор кафедры внутренних болезней Института медицинского образования, главный научный сотрудник научно-исследовательской лабораторией диабетологии; руководитель научно-исследовательского отдела генетических рисков и персонифицированной профилактики, Научный центр мирового уровня «Центр персонализированной медицины» </p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Alina Yu. Babenko, Dr. Sci. (Med.), Professor, Department of Internal Diseases of the Institute, Head of the Research Laboratory of Prediabetes and Metabolic Disorders, Head of the Research Laboratory of Diabetology; Head of the Research Department of Genetic Risks and Personalized Prevention, World-Class Scientific Center “Center for Personalized Medicine” </p><p>Saint Petersburg</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Almazov National Medical Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Областное бюджетное учреждение здравоохранения «Курская областная многопрофильная клиническая больница» Комитета здравоохранения Курской области</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Budgetary Healthcare Institution, Kursk Regional Multidisciplinary Clinical Hospital of the Healthcare Committee of the Kursk Region</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>25</day><month>11</month><year>2022</year></pub-date><volume>9</volume><issue>4</issue><fpage>62</fpage><lpage>73</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Пономарцева Д.А., Хушкина А.Ю., Костарева А.А., Бабенко А.Ю., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Пономарцева Д.А., Хушкина А.Ю., Костарева А.А., Бабенко А.Ю.</copyright-holder><copyright-holder xml:lang="en">Ponomartseva D.A., Hushkina A.Y., Kostareva A.A., Babenko A.Y.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://transmed.almazovcentre.ru/jour/article/view/736">https://transmed.almazovcentre.ru/jour/article/view/736</self-uri><abstract><p>Введение. В генезе тиреотоксической фибрилляции предсердий (ТФП) не исключается наличие генетического компонента в связи с различием эффектов тиреоидных гормонов на сердечно-сосудистую систему у схожих пациентов. Первым ассоциированным с нетиреотоксической фибрилляцией предсердий (ФП) локусом, по данным исследований полногеномного поиска ассоциаций (GWAS), был локус 4q25, а первыми его полиморфными вариантами, идентифицированными, как факторы риска ФП, были полиморфизмы rs2200733 и rs10033464. Связь их с ТФП ранее не была изучена.Цель исследования. Исследовать наличие ассоциации ТФП с однонуклеотидными полиморфизмами rs2200733 и rs10033464 хромосомы 4q25.Материалы и методы. Ассоциация ТФП и некоторых других проявлений тиреотоксической кардиомиопатии с вышеописанными полиморфизмами изучена на выборке из 150 пациентов с болезнью Грейвса и манифестным тиреотоксикозом, 18.7 % из которых имели ТФП. Генотипирование проводилось методом полимеразно-цепной реакции в режиме реального времени.Результаты. По обоим полиморфизмам выявлено достоверное преобладание генотипа ТТ при сравнении всех трех генотипов между собой: р=0.038 для rs10033464, p&lt;0.001 для rs2200733. Частота генотипа TT в группе пациентов с ТФП по сравнению с группой без нее: 7.4 % vs 1.6 % для rs10033464, 17.9 % vs 0.8 % для rs2200733. При оценке частоты генотипов в зависимости от наличия других проявлений тиреотоксической кардиомиопатии, генотип ТТ полиморфизма rs2200733 встречался достоверно чаще у пациентов с желудочковой экстрасистолией, р=0.001.Выводы. Генотип ТТ по полиморфизмам в локусе 4q25 rs2200733 и rs10033464 ассоциирован с большей частотой развития ТФП и желудочковой экстрасистолии при тиреотоксикозе.</p></abstract><trans-abstract xml:lang="en"><p>Background. Thyrotoxic atrial fibrillation (TAF) genesis does not exclude a genetic component due to the difference in thyroid hormones effects on the cardiovascular system in similar patients. According to genomewide association studies (GWAS), the first locus associated with non-thyrotoxic atrial fibrillation (AF) was locus 4q25, and the first single-nucleotide polymorphisms in it identified as risk factors for AF were polymorphisms rs2200733 and rs10033464. Their connection with TAF remains unclear.Objective. To investigate the possible association of the two single nucleotide polymorphisms rs2200733 and rs10033464 with TAF.Design and methods. The association of TAF and other thyrotoxic cardiomyopathy manifestations with the studied polymorphisms was examined in a sample of 150 patients with Graves’ disease and overt thyrotoxicosis, 18.7 % of whom had TAF. Genotyping was preformed using real time PCR.Results. A significant predominance of TT genotype for both polymorphisms was revealed: p=0.038 for rs10033464, p&lt;0.001 for rs2200733. TT genotype frequency in TAF patients compared with non-TAF participants: 7.4 % vs 1.6 % for rs10033464, 17.9 % vs 0.8 % for rs2200733. When assessing the frequency of genotypes depending on the presence of other thyrotoxic cardiomyopathy manifestations, TT genotype was more common in patients with ventricular premature beats, p=0.001.Conclusion. TT genotype of rs2200733 and rs10033464 polymorphisms at 4q25 locus is associated with a higher incidence of TAF and ventricular extrasystole in thyrotoxic patients.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>rs10033464</kwd><kwd>rs2200733</kwd><kwd>однонуклеотидный полиморфизм</kwd><kwd>тиреотоксическая фибрилляция предсердий</kwd><kwd>хромосома 4q25</kwd></kwd-group><kwd-group xml:lang="en"><kwd>a single nucleotide polymorphism</kwd><kwd>chromosome 4q25</kwd><kwd>rs10033464</kwd><kwd>rs2200733</kwd><kwd>thyrotoxic atrial fibrillation</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено при финансовой поддержке следующего источника: государственное задание №26, регистрационный номер АААА-А18-118042390142-5.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Razvi S, Jabbar A, Pingitore A et al. 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