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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/VJ19.530</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-2211</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, НЕЙРОГЕНЕТИКА, ИММУНОГЕНЕТИКА, БИОМЕДИЦИНА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>POPULATION GENETICS</subject></subj-group></article-categories><title-group><article-title>Ассоциация полиморфизма TP53 Arg72Pro с риском развития радон-индуцированного рака легкого в казахской популяции</article-title><trans-title-group xml:lang="en"><trans-title>Association of polymorphism TP53 Arg72Pro with radon-induced lung cancer in the Kazakh population</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3272-0638</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Булгакова</surname><given-names>О.</given-names></name><name name-style="western" xml:lang="en"><surname>Bulgakova</surname><given-names>O.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"><p>Nur-Sultan</p></bio><email xlink:type="simple">a.summer13@yandex.kz</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1313-9779</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кусаинова</surname><given-names>А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kussainova</surname><given-names>A.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"><p>Nur-Sultan</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>Какабаев</surname><given-names>А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kakabayev</surname><given-names>A.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-7012-2711</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Каусбекова</surname><given-names>А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kausbekova</surname><given-names>А.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"><p>Nur-Sultan</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/0000-0002-9671-1178</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Берсимбаев</surname><given-names>Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Bersimbaev</surname><given-names>R.</given-names></name></name-alternatives><bio xml:lang="ru"/><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Евразийский национальный университет им. Л.Н. Гумилева, Институт клеточной биологии и биотехнологии<country>Казахстан</country></aff><aff xml:lang="en">L.N. Gumilyov Eurasian National University, Institute of Cell Biology and Biotechnology<country>Kazakhstan</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru">Кокшетауский государственный университет им. Ш. Уалиханова<country>Казахстан</country></aff><aff xml:lang="en">Sh. Ualikhanov Kokshetau State University<country>Kazakhstan</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2019</year></pub-date><pub-date pub-type="epub"><day>23</day><month>08</month><year>2019</year></pub-date><volume>23</volume><issue>5</issue><fpage>594</fpage><lpage>599</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Булгакова О., Кусаинова А., Какабаев А., Каусбекова А., Берсимбаев Р., 2019</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="ru">Булгакова О., Кусаинова А., Какабаев А., Каусбекова А., Берсимбаев Р.</copyright-holder><copyright-holder xml:lang="en">Bulgakova O., Kussainova A., Kakabayev A., Kausbekova А., Bersimbaev R.</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/2211">https://vavilov.elpub.ru/jour/article/view/2211</self-uri><abstract><p>Самый распространенный тип рака в структуре онкологических заболеваний – рак легкого, который представляет собой серьезную проблему не только в Республике Казахстан, но и по всему миру. Воздействие радона классифицируется как вторая причина развития онкологии легкого. По оценкам экспертов, естественный радиационный фон составляет 80 % от среднегодовой дозы облучения населения Казахстана, из которых 50 % приходится на радон. Однако следует отметить, что влияние радона на здоровье населения Республики Казахстан остается невыясненным. Ген-супрессор опухолей TP53 является ключевым медиатором в каскаде реакций активируемых при повреждениях ДНК в результате воздействия на клетку ионизирующего излучения. Известно, что полиморфизм TP53 Arg72Pro (rs1042522) часто встречается в азиатской популяции и считается фактором риска развития рака легкого, но до настоящего времени не была изучена его ассоциация с патогенезом этого заболевания в казахской популяции. Нет информации относительно синергетического канцерогенного эффекта воздействия радона и полиморфизма TP53 Arg72Pro (rs1042522). В этой статье представлены результаты поиска связи полиморфного варианта гена ТР53 с риском развития рака легкого, вызванного радоном, в казахской популяции. Генетическая ассоциация была оценена по методу «случай-контроль». В исследование были включены 44 пациента (подвергшиеся воздействию радона) с диагнозом рак легкого, 41 пациент с диагнозом рак легкого из регионов с допустимыми показателями содержания радона и 42 здоровых человека соответствующего возраста и пола. Мы обнаружили корреляцию между полиморфизмом гена TP53 Arg72Pro (rs1042522) и риском развития рака легкого в казахской популяции (OR = 6.95, 95 % CI = 2.41–20.05). Необходимо отметить, что лица с генотипом Arg72Pro также показали более высокую вероятность развития радониндуцированного рака легкого (OR = 8.6, 95 % CI 2.6–28.59).</p></abstract><trans-abstract xml:lang="en"><p>Lung cancer is a problem of great concern and one of the commonest cancer diseases worldwide and in the Republic of Kazakhstan in particular. Radon exposure is classified as the second most important cause of lung cancer. According to the experts, the contribution of natural sources to the average annual radiation dose of the Kazakh population currently stands at 80 %, including 50 % from radon. However, the effect of radon on human health in the Republic of Kazakhstan is almost unknown. The tumor suppressor gene TP53 is a key mediator of the DNA damage response cascade following cell exposure to ionizing radiation. The common polymorphism TP53 Arg72Pro (rs1042522) is a risk factor for lung cancer in the Asian population, but until now no genetic association studies have been done in the Kazakh population. No information on the synergistic carcinogenic effect of radon exposure and polymorphism TP53 Arg72Pro (rs1042522) is available either. This paper presents the results of the study of association between alteration in the TP53 gene and radon-induced lung cancer risk in the Kazakh population. Genetic association was assessed in a case-control study including 44 radon-exposed patients with lung cancer, 41 patients with lung cancer without radon exposure and 42 age/sex-matched healthy controls. We found that polymorphism TP53 Arg72Pro (rs1042522) was associated with lung cancer risk in the Kazakh population (OR = 6.95, 95 % CI = 2.41–20.05). Individuals with the Arg72Pro genotype also showed a significantly higher risk of radon-induced lung cancer (OR = 8.6, 95 % CI = 2.6–28.59).</p></trans-abstract><kwd-group xml:lang="ru"><kwd>TP53 Arg72Pro (rs1042522)</kwd><kwd>радон</kwd><kwd>рак легкого</kwd><kwd>казахская популяция</kwd></kwd-group><kwd-group xml:lang="en"><kwd>polymorphism TP53 Arg72Pro (rs1042522)</kwd><kwd>radon</kwd><kwd>lung cancer</kwd><kwd>Kazakh population</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>We thank the Astana Oncology Center (Nur-Sultan city) and Akmola Region Oncology Hospital (Kokshetau city) for their help in collection of samples.</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">Bersimbaev R., Bulgakova O. The health effects of radon and uranium on the population of Kazakhstan. Genes Environ. 2015;37:18. 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