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<article 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" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="research-article" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Acta Naturae</journal-id><journal-title-group><journal-title xml:lang="en">Acta Naturae</journal-title><trans-title-group xml:lang="ru"><trans-title>Acta Naturae</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2075-8251</issn><publisher><publisher-name xml:lang="en">Acta Naturae Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">11853</article-id><article-id pub-id-type="doi">10.32607/actanaturae.11853</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Research Articles</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Экспериментальные статьи</subject></subj-group><subj-group subj-group-type="article-type"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Genetic Variants Associated with Bronchial Asthma Specific to the Population of the Russian Federation</article-title><trans-title-group xml:lang="ru"><trans-title>Генетические варианты, ассоциированные с бронхиальной астмой, специфичные для населения РФ</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Akhmerova</surname><given-names>Yuliya N.</given-names></name><name xml:lang="ru"><surname>Ахмерова</surname><given-names>Юлия Николаевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Shpakova</surname><given-names>Tatyana A.</given-names></name><name xml:lang="ru"><surname>Шпакова</surname><given-names>Татьяна Андреевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Grammatikati</surname><given-names>Konstantin S.</given-names></name><name xml:lang="ru"><surname>Грамматикати</surname><given-names>Константин Сергеевич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Mitrofanov</surname><given-names>Sergey I.</given-names></name><name xml:lang="ru"><surname>Митрофанов</surname><given-names>Сергей Игоревич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Kazakova</surname><given-names>Polina G.</given-names></name><name xml:lang="ru"><surname>Казакова</surname><given-names>Полина Геннадьевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Mkrtchian</surname><given-names>Anastasia A.</given-names></name><name xml:lang="ru"><surname>Мкртчян</surname><given-names>Анастасия Алексеевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Zemsky</surname><given-names>Pavel Yu.</given-names></name><name xml:lang="ru"><surname>Земский</surname><given-names>Павел Юрьевич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Pilipenko</surname><given-names>Mariia N.</given-names></name><name xml:lang="ru"><surname>Пилипенко</surname><given-names>Мария Николаевна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Feliz</surname><given-names>Nadezhda V.</given-names></name><name xml:lang="ru"><surname>Фелиз</surname><given-names>Надежда Владимировна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Frolova</surname><given-names>Lidiya V.</given-names></name><name xml:lang="ru"><surname>Фролова</surname><given-names>Лидия Владимировна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Frolovskaya</surname><given-names>Alesya A.</given-names></name><name xml:lang="ru"><surname>Фроловская</surname><given-names>Алеся Александровна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Yudin</surname><given-names>Vladimir S.</given-names></name><name xml:lang="ru"><surname>Юдин</surname><given-names>Владимир Сергеевич</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Keskinov</surname><given-names>Anton A.</given-names></name><name xml:lang="ru"><surname>Кескинов</surname><given-names>Антон Артурович</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Kraevoy</surname><given-names>Sergey A.</given-names></name><name xml:lang="ru"><surname>Краевой</surname><given-names>Сергей Александрович</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Yudin</surname><given-names>Sergey M.</given-names></name><name xml:lang="ru"><surname>Юдин</surname><given-names>Сергей Михайлович</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Skvortsova</surname><given-names>Veronika I.</given-names></name><name xml:lang="ru"><surname>Скворцова</surname><given-names>Вероника Игоревна</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>YUAhmerova@cspfmba.ru</email><xref ref-type="aff" rid="aff2"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Federal State Budgetary Institution “Center for Strategic Planning and Management of Biomedical Health Risks” of the Federal Medical Biological Agency (Center for Strategic Planning of FMBA of Russia)</institution></aff><aff><institution xml:lang="ru">Федеральное государственное бюджетное учреждение «Центр стратегического планирования и управления медико-биологическими рисками здоровью» Федерального медико-биологического агентства (ФГБУ «ЦСП» ФМБА России)</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Federal Medical Biological Agency (FMBA of Russia)</institution></aff><aff><institution xml:lang="ru">Федеральное медико-биологическое агентство (ФМБА России)</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2023-05-03" publication-format="electronic"><day>03</day><month>05</month><year>2023</year></pub-date><volume>15</volume><issue>1</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>31</fpage><lpage>41</lpage><history><date date-type="received" iso-8601-date="2022-11-07"><day>07</day><month>11</month><year>2022</year></date><date date-type="accepted" iso-8601-date="2023-01-11"><day>11</day><month>01</month><year>2023</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2023, Akhmerova Y.N., Shpakova T.А., Grammatikati K.S., Mitrofanov S.I., Kazakova P.G., Mkrtchian A.A., Zemsky P.Y., Pilipenko M.N., Feliz N.V., Frolova L.V., Frolovskaya A.A., Yudin V.S., Keskinov A.A., Kraevoy S.A., Yudin S.M., Skvortsova V.I.</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2023, Ахмерова Ю.Н., Шпакова Т.А., Грамматикати К.С., Митрофанов С.И., Казакова П.Г., Мкртчян А.А., Земский П.Ю., Пилипенко М.Н., Фелиз Н.В., Фролова Л.В., Фроловская А.А., Юдин В.С., Кескинов А.А., Краевой С.А., Юдин С.М., Скворцова В.И.</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="en">Akhmerova Y.N., Shpakova T.А., Grammatikati K.S., Mitrofanov S.I., Kazakova P.G., Mkrtchian A.A., Zemsky P.Y., Pilipenko M.N., Feliz N.V., Frolova L.V., Frolovskaya A.A., Yudin V.S., Keskinov A.A., Kraevoy S.A., Yudin S.M., Skvortsova V.I.</copyright-holder><copyright-holder xml:lang="ru">Ахмерова Ю.Н., Шпакова Т.А., Грамматикати К.С., Митрофанов С.И., Казакова П.Г., Мкртчян А.А., Земский П.Ю., Пилипенко М.Н., Фелиз Н.В., Фролова Л.В., Фроловская А.А., Юдин В.С., Кескинов А.А., Краевой С.А., Юдин С.М., Скворцова В.И.</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://actanaturae.ru/2075-8251/article/view/11853">https://actanaturae.ru/2075-8251/article/view/11853</self-uri><abstract xml:lang="en"><p>Bronchial asthma (BA) is a disease that still lacks an exhaustive treatment protocol. In this regard, the global medical community pays special attention to the genetic prerequisites for the occurrence of this disease. Therefore, the search for the genetic polymorphisms underlying bronchial asthma has expanded considerably. As the present study progressed, a significant amount of scientific medical literature was analyzed and 167 genes reported to be associated with the development of bronchial asthma were identified. A group of participants (n = 7,303) who had voluntarily provided their biomaterial (venous blood) to be used in the research conducted by the Federal Medical Biological Agency of Russia was formed to subsequently perform a bioinformatic verification of known associations and search for new ones. This group of participants was divided into four cohorts, including two sex-distinct cohorts of individuals with a history of asthma and two sex-distinct cohorts of apparently healthy individuals. A search for polymorphisms was made in each cohort among the selected genes, and genetic variants were identified whose difference in occurrence in the different cohorts was statistically significant (significance level less than 0.0001). The study revealed 11 polymorphisms that affect the development of asthma: four genetic variants (rs869106717, rs1461555098, rs189649077, and rs1199362453), which are more common in men with bronchial asthma compared to apparently healthy men; five genetic variants (rs1923038536, rs181066119, rs143247175, rs140597386, and rs762042586), which are more common in women with bronchial asthma compared to apparently healthy women; and two genetic variants (rs1219244986 and rs2291651) that are rare in women with a history of asthma.</p></abstract><trans-abstract xml:lang="ru"><p>Бронхиальная астма (БА) – хроническое заболевание, до сих пор не имеющее исчерпывающего протокола лечения. В связи с этим особое внимание привлекает поиск генетических предпосылок возникновения данного заболевания. Широкое распространение получило изучение ассоциаций генетических полиморфизмов ряда генов с бронхиальной астмой. В результате анализа литературы нами отобраны 167 генов, ассоциированных с развитием бронхиальной астмы. С целью биоинформатической проверки ассоциаций известных полиморфизмов генов с развитием бронхиальной астмы и поиска новых была сформирована группа из 7303 человек, добровольно предоставивших свой биоматериал (венозную кровь) для исследований. Эту группу разбили на две когорты, состоящие из лиц с бронхиальной астмой в анамнезе и условно здоровых доноров. Каждую когорту разделили в свою очередь в соответствии с их гендерной принадлежностью. В каждой когорте проанализировали полиморфные варианты отобранных генов и выявили те, встречаемость которых в разных когортах различалась статистически значимо (уровень значимости менее 0.0001). В ходе исследования обнаружено 11 полиморфизмов, влияющих на развитие БА: четыре генетических варианта (rs869106717, rs1461555098, rs189649077, rs1199362453), которые чаще встречаются у мужчин, болеющих бронхиальной астмой, чем у условно здоровых мужчин; пять генетических вариантов (rs1923038536, rs181066119, rs143247175, rs140597386, rs762042586), которые чаще встречаются у женщин с бронхиальной астмой в анамнезе, чем у условно здоровых женщин; два генетических варианта (rs1219244986, rs2291651), редко встречающихся у женщин с бронхиальной астмой в анамнезе.</p></trans-abstract><kwd-group xml:lang="en"><kwd>bronchial asthma</kwd><kwd>polymorphism</kwd><kwd>phenotype–genotype associations</kwd><kwd>genetic variants</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>бронхиальная астма</kwd><kwd>полиморфизм</kwd><kwd>фенотип-генотипические ассоциации</kwd><kwd>генетические варианты</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><citation-alternatives><mixed-citation xml:lang="en">Interregional public organization Russian Respiratory Society, All-Russian public organization Association of Allergists and Clinical Immunologists, All-Russian public organization Union of Pediatricians of Russia, Scientific Council of the Ministry of Health of the Russian Federation. 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