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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">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/vjgb-26-79</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-5232</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>МЕДИЦИНСКАЯ ГЕНЕТИКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>MEDICAL GENETICS</subject></subj-group></article-categories><title-group><article-title>Анализ распределения гаплотипов генов IL13 и ADAM33  у русских, хакасов и тувинцев в связи с риском развития бронхиальной астмы</article-title><trans-title-group xml:lang="en"><trans-title>Analysis of distribution of IL13 and ADAM33 gene haplotypes   in Russians, Khakass, Tuvans in relation to the risk  of developing bronchial asthma</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>Смольникова</surname><given-names>М. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Smolnikova</surname><given-names>M. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</p></bio><email xlink:type="simple">smarinv@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>Афоничева</surname><given-names>К. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Afonicheva</surname><given-names>K. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</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>Милейко</surname><given-names>А. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Mileyko</surname><given-names>A. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Научно-исследовательский институт медицинских проблем Севера – обособленное подразделение Федерального исследовательского центра «Красноярский научный центр Сибирского отделения Российской академии наук»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Scientific Research Institute of Medical Problems of the North – a separate division of the Federal Research Center “Krasnoyarsk Science Center”  of the Siberian Branch of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2026</year></pub-date><pub-date pub-type="epub"><day>26</day><month>08</month><year>2026</year></pub-date><volume>30</volume><issue>5</issue><fpage>782</fpage><lpage>791</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Смольникова М.В., Афоничева К.В., Милейко А.Г., 2026</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Смольникова М.В., Афоничева К.В., Милейко А.Г.</copyright-holder><copyright-holder xml:lang="en">Smolnikova M.V., Afonicheva K.V., Mileyko A.G.</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://vavilov.elpub.ru/jour/article/view/5232">https://vavilov.elpub.ru/jour/article/view/5232</self-uri><abstract><p>Несмотря на значительные успехи в исследованиях молекулярных механизмов бронхиальной астмы (БА), остаются малоизученными популяционно-генетические особенности, особенно в мультиэтнических регионах России. Актуальность изучения патогенеза астмы определяется необходимостью выявления этноспецифичных генетических маркеров для совершенствования подходов к персонифицированному прогнозированию риска развития и тяжести течения БА. Целью работы был сравнительный анализ гаплотипических комбинаций в генах IL13 (rs20541, rs1800925, rs1295686) и ADAM33 (rs2280090, rs2787094, rs44707) между этническими группами для выявления потенциальных популяционно-специфичных генетических маркеров в локусах, ассоциированных с БА. В исследовании приняли участие 524 подростка в возрасте от 12 до 18 лет из Красноярска, Кызыла и Абакана, с верифицированной национальной принадлежностью (русские – 293, тувинцы – 158, хакасы – 73). ДНК выделяли из образцов слюны с последующим генотипированием полиморфных локусов генов IL13 (rs20541, rs1800925, rs1295686) и ADAM33 (rs2280090, rs2787094, rs44707) методом ПЦР в реальном времени. Установлено, что у русских редкие варианты полиморфизмов IL13 встречаются чаще по сравнению с тувинцами и хакасами. У хакасов и тувинцев в два-три раза чаще относительно русских встречается гаплотип ATC IL13. В русской популяции значимо чаще выявлялся гаплотип GAC гена ADAM33, содержащий редкие аллели всех исследованных полиморфизмов. Полученные данные подчеркивают актуальность анализа гаплотипов и важность учета этногеографических особенностей при оценке генетических рисков развития БА.</p></abstract><trans-abstract xml:lang="en"><p>Bronchial asthma (BA) is a heterogeneous disease, the development of which is determined by a complex interaction of genetic factors and environmental factors. Despite significant progress in understanding the molecular mechanisms of the disease, population-specific genetic characteristics, especially in multi-ethnic regions of Russia, remain understudied. The relevance of this study is determined by the need to identify ethnicity-specific genetic markers to improve approaches for personalized prediction of the risk of developing BA and its severity. The aim of the work was to conduct a comparative analysis of haplotypic combinations in the IL13 (rs20541, rs1800925, rs1295686) and ADAM33 (rs2280090, rs2787094, rs44707) genes between ethnic groups to identify potential population-specific genetic markers at BA-associated loci. The study involved 524 adolescents aged 12 to 18 years from Krasnoyarsk, Kyzyl and Abakan with verified ethnicity (Slavs – 293, Tuvans – 158, Khakass – 73). DNA was isolated from saliva samples followed by genotyping of polymorphic loci of the IL13 (rs20541, rs1800925, rs1295686) and ADAM33 (rs2280090, rs2787094, rs44707) genes using real-time PCR. It was found that rare variants of IL13 polymorphisms were more common in Russians than in Tuvans and the Khakass. The ATC haplotype of IL13 is 2–3 times more common among the Khakass and Tuvans than in Russians. In the Russian population, the GAC haplotype of the ADAM33 gene, containing rare alleles of all the polymorphisms studied, is detected significantly more often. The data obtained emphasize the relevance of haplotype analysis and the importance of taking into account ethnogeographical features when assessing the genetic risks of BA.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>бронхиальная астма</kwd><kwd>генетический полиморфизм</kwd><kwd>гаплотипы</kwd><kwd>популяции</kwd><kwd>IL13</kwd><kwd>ADAM33</kwd></kwd-group><kwd-group xml:lang="en"><kwd>bronchial asthma</kwd><kwd>gene polymorphism</kwd><kwd>haplotypes</kwd><kwd>populations</kwd><kwd>IL13</kwd><kwd>ADAM33</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">The research was carried out within the subject of the state assignment of Scientific Research Institute of Medical Problems of the North – a separate subdivision of FRC KSC SB RAS No. 124020100065-3 “The study of the molecular and cellular regulating mechanisms of the immune response and the interaction of the immune system with other body systems in residents of Eastern Siberia”.</funding-statement><funding-statement xml:lang="en">The research was carried out within the subject of the state assignment of Scientific Research Institute of Medical Problems of the North – a separate subdivision of FRC KSC SB RAS No. 124020100065-3 “The study of the molecular and cellular regulating mechanisms of the immune response and the interaction of the immune system with other body systems in residents of Eastern Siberia”.</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">Afonicheva K.V., Mileyko A.G., Tereshchenko S.Yu., Smolni ko va M.V. 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