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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-23-47</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-3783</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>БИОТЕХНОЛОГИЯ В ПОСТГЕНОМНУЮ ЭРУ</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>Генетические маркеры бронхиальной астмы у детей: предрасположенность к вариантам течения заболевания</article-title><trans-title-group xml:lang="en"><trans-title>Genetic markers of children asthma: predisposition to disease course variants</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9984-2029</contrib-id><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"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5988-1688</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Каспаров</surname><given-names>Э. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kasparov</surname><given-names>Ed. W.</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"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6350-8616</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Малинчик</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Malinchik</surname><given-names>M. A.</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"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5006-0429</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Копылова</surname><given-names>К. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kopylova</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-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Научно-исследовательский институт медицинских проблем Севера – обособленное подразделение Федерального исследовательского центра «Красноярский научный центр Сибирского отделения Российской академии наук»<country>Россия</country></aff><aff xml:lang="en">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<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>14</day><month>07</month><year>2023</year></pub-date><volume>27</volume><issue>4</issue><fpage>393</fpage><lpage>400</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Смольникова М.В., Каспаров Э.В., Малинчик М.А., Копылова К.В., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Смольникова М.В., Каспаров Э.В., Малинчик М.А., Копылова К.В.</copyright-holder><copyright-holder xml:lang="en">Smolnikova M.V., Kasparov E.W., Malinchik M.A., Kopylova K.V.</copyright-holder><license 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/3783">https://vavilov.elpub.ru/jour/article/view/3783</self-uri><abstract><p>Астма – хроническое гетерогенное и часто трудно поддающееся лечению состояние, приводящее к несоразмерным расходам системы здравоохранения. Дети с тяжелой астмой подвержены повышенному риску неблагоприятных исходов, включая побочные эффекты, связанные с приемом лекарств, угрожающие жизни обострения и ухудшение качества жизни. Важным терапевтическим акцентом является достижение контроля над заболеванием, что подразумевает персонифицированный подход к лечению при любой степени тяжести астмы. Астма относится к мультифакториальным заболеваниям, имеющим значимую генетическую детерминанту, однако наследование астмы на сегодняшний день полностью не объяснено. В развитии разных форм заболевания особую роль играют полиморфные гены медиаторов воспаления, в том числе цитокинов. В настоящем исследовании впервые получены масштабные данные о распределении генотипов генов цитокинов (IL2, IL4, IL5, IL6, IL10, IL12, IL13, IL17A, IL31, IL33, IFNG, TNFA) среди больных астмой русских детей Красноярского края. Генотипирование осуществлено с использованием метода полимеразной цепной реакции в режиме реального времени (ПЦР-РВ). В ходе исследования нами выявлены маркеры, предрасполагающие к развитию различных вариантов течения астмы у детей: генотип CT и аллель Т rs2243250 IL4 ассоциированы с развитием астмы (p &lt; 0.05), особенно при легкой форме и контролируемом течении. Генотип ТT и аллель Т rs1800925 IL13 ассоциированы с астмой, в том числе тяжелой степени, и с неконтролируемой формой (p &lt; 0.05). Установлено, что генотипы АА IL17A rs2275913, ТТ IFNG rs2069705 и аллельный вариант А TNFA rs1800629 ассоциированы с легкой степенью астмы, генотип ТТ IFNG rs2069705 ассоциирован также с контролируемой формой. Полученные результаты дополнят данные о характеристике распределения полиморфных вариантов генов цитокинов в русской популяции и у больных астмой с различным течением заболевания, что можно будет использовать для формирования планов органов практического здравоохранения в отношении профилактики развития тяжелой неконтролируемой астмы и в целях оптимизации персонифицированной терапии.</p></abstract><trans-abstract xml:lang="en"><p>Asthma is a heterogeneous and often difficult to treat condition that results in a disproportionate cost to healthcare systems. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life-threatening exacerbations, and impaired quality of life. An important therapeutic focus is to achieve disease control, which is supposed to involve a personalized approach to treatment of asthma of any severity. Asthma is a multifactorial disease with a significant genetic determinant, however, the inheritance of asthma has not been fully elucidated. Polymorphic genes of inflammatory mediators, including cytokines, play an important role in developing various disease forms. In the current study, large-scale original data on the prevalence of cytokine gene genotypes (IL2, IL4, IL5, IL6, IL10, IL12, IL13, IL17A, IL31, IL33, IFNG, TNFA) among Russian children with asthma in Krasnoyarsk region have been obtained. Genotyping was carried out using real-time PCR. We identified markers predisposing to the development of different variants of the course of childhood asthma: the CT genotype and T allele of IL4 rs2243250 are associated with asthma (p &lt; 0.05), especially in mild asthma and in controlled asthma. The TT genotype and allele T of IL13 rs1800925 are associated with severe and uncontrolled asthma (p &lt; 0.05). The AA genotype of IL17A rs2275913, the TT genotype of IFNG rs2069705 and allelic A variants of TNFA rs1800629 are associated with mild asthma, and the TT genotype of IFNG rs2069705 is additionally associated with controlled asthma. The results obtained will supplement information on the prevalence of polymorphic variants of the cytokine genes in the Russian population and in asthma patients with different disease courses, which is likely to be used in order to shape a plan for Public Health Authority to prevent the development of severe uncontrolled asthma and to optimize personalized therapy.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>бронхиальная астма</kwd><kwd>цитокин</kwd><kwd>полиморфизм генов</kwd><kwd>дети</kwd><kwd>степень тяжести астмы</kwd><kwd>уровень контроля</kwd></kwd-group><kwd-group xml:lang="en"><kwd>asthma</kwd><kwd>cytokine</kwd><kwd>gene polymorphism</kwd><kwd>child</kwd><kwd>asthma severity</kwd><kwd>level of diseases control</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>Authors express their gratitude to the researchers of the Clinical Department of Somatic and Mental Health of Children of Scientific Research Institute of Medical Problems of the North for the help in collecting the material.</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">Chen J., Deng Y., Zhao J., Luo Z., Peng W., Yang J., Ren L., Wang L., Fu Z., Yang X., Liu E. 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