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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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">medgen-1698</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>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Исследование полиморфных вариантов и уровня метилирования генов, участвующих в метаболизме глюкокортикостероидов, у больных бронхиальной астмой и здоровых индивидов</article-title><trans-title-group xml:lang="en"><trans-title>Study of polymorphisms and the methylation status of genes involved in glucocorticosteroid metabolism in patients with asthma and healthy individuals</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>Федорова</surname><given-names>Ю. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Fedorova</surname><given-names>Yu. Yu.</given-names></name></name-alternatives><email xlink:type="simple">fedorova-y@yandex.ru</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>Карунас</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Karunas</surname><given-names>A. S.</given-names></name></name-alternatives><email xlink:type="simple">carunas@list.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Савельева</surname><given-names>О. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Savelieva</surname><given-names>O. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гималова</surname><given-names>Г. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Gimalova</surname><given-names>G. F.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мурзина</surname><given-names>Р. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Murzina</surname><given-names>R. R.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гатиятуллин</surname><given-names>Р. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Gatiyatullin</surname><given-names>R. F.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Эткина</surname><given-names>Э. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Etkina</surname><given-names>E. I.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Институт биохимии и генетики - обособленное структурное подразделение ФГБНУ Уфимского федерального исследовательского центра Российской академии наук; ФГБОУ ВО «Санкт-Петербургский государственный университет»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Институт биохимии и генетики - обособленное структурное подразделение ФГБНУ Уфимского федерального исследовательского центра Российской академии наук; ФГБОУ ВО «Башкирский государственный университет»; ФГБОУ ВО «Санкт-Петербургский государственный университет»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБОУ ВО «Башкирский государственный университет»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Институт биохимии и генетики - обособленное структурное подразделение ФГБНУ Уфимского федерального исследовательского центра Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>ФГБОУ ВО «Башкирский государственный медицинский университет» Министерства здравоохранения РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University of the Ministry of Healthcare of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>26</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>8</issue><fpage>95</fpage><lpage>97</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Федорова Ю.Ю., Карунас А.С., Савельева О.Н., Гималова Г.Ф., Мурзина Р.Р., Гатиятуллин Р.Ф., Эткина Э.И., Хуснутдинова Э.К., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Федорова Ю.Ю., Карунас А.С., Савельева О.Н., Гималова Г.Ф., Мурзина Р.Р., Гатиятуллин Р.Ф., Эткина Э.И., Хуснутдинова Э.К.</copyright-holder><copyright-holder xml:lang="en">Fedorova Y.Y., Karunas A.S., Savelieva O.N., Gimalova G.F., Murzina R.R., Gatiyatullin R.F., Etkina E.I., Khusnutdinova E.K.</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://www.medgen-journal.ru/jour/article/view/1698">https://www.medgen-journal.ru/jour/article/view/1698</self-uri><abstract><p>Проведен поиск генетических и эпигенетических маркеров риска развития бронхиальной астмы (БА) и чувствительности к терапии глюкокортикостероидами (ГКС) у индивидов русской, татарской и башкирской этнической принадлежности. Установлено, что полиморфные варианты генов, участвующих в метаболизме ГКС (NR3C1, CRHR1, GLCCI1, ТBXT, FBXL7), влияют на особенности развития и течения БА. При анализе статуса метилирования гена глюкокортикоид-индуцированного транскрипта 1 GLCCI1 обнаружен повышенный уровень метилирования промоторной области гена GLCCI1 у больных БА.</p></abstract><trans-abstract xml:lang="en"><p>The search for genetic and epigenetic markers of the risk asthma and sensitivity to glucocorticosteroid therapy (GCs) in Russians, Tatars and Bashkirs was performed. It was established that polymorphic variants of genes involved in the metabolism of GCs (NR3C1, CRHR1, GLCCI1, TBXT, FBXL7) affect the features of the development and course of asthma. An analysis of the methylation status of the glucocorticoid-induced transcript 1 GLCCI1 gene revealed an increased level of methylation of the promoter region of the GLCCI1 gene in asthma patients.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>бронхиальная астма</kwd><kwd>гены</kwd><kwd>участвующие в метаболизме глюкокортикостероидов</kwd><kwd>ассоциация</kwd><kwd>метилирование</kwd></kwd-group><kwd-group xml:lang="en"><kwd>bronchial asthma</kwd><kwd>genes involved in glucocorticosteroid metabolism</kwd><kwd>association</kwd><kwd>methylation</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
