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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/VJ17.275</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-1144</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>Генетический полиморфизм и сопутствующие факторы риска ишемического инсульта в монгольской популяции Китая</article-title><trans-title-group xml:lang="en"><trans-title>Genetic polymorphisms and related risk factors of ischemic stroke in a Mongolian population in China</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>У</surname><given-names>Ч.</given-names></name><name name-style="western" xml:lang="en"><surname>Wu</surname><given-names>Q.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>У</surname><given-names>Х.</given-names></name><name name-style="western" xml:lang="en"><surname>Wu</surname><given-names>H.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Орлов</surname><given-names>Ю. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Orlov</surname><given-names>Yu. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Новосибирск</p></bio><bio xml:lang="en"><p>Novosibirsk</p></bio><email xlink:type="simple">orlov@bionet.nsc.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>Гегентана</surname><given-names>Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Gegentana</surname><given-names>G.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Хуо</surname><given-names>В.</given-names></name><name name-style="western" xml:lang="en"><surname>Huo</surname><given-names>W.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Брагин</surname><given-names>А. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Bragin</surname><given-names>A. O.</given-names></name></name-alternatives><bio xml:lang="en"><p>Novosibirsk</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>У</surname><given-names>Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Wu</surname><given-names>N.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao;</p><p>Virginia</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Суялату</surname><given-names>С.</given-names></name><name name-style="western" xml:lang="en"><surname>Suyalatu</surname><given-names>S.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Жао</surname><given-names>Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Zhao</surname><given-names>F.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Жао</surname><given-names>Ж.</given-names></name><name name-style="western" xml:lang="en"><surname>Zhao</surname><given-names>J.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</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>Табиханова</surname><given-names>Л. Э.</given-names></name><name name-style="western" xml:lang="en"><surname>Tabikhanova</surname><given-names>L. E.</given-names></name></name-alternatives><bio xml:lang="en"><p>Novosibirsk</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чен</surname><given-names>М.</given-names></name><name name-style="western" xml:lang="en"><surname>Chen</surname><given-names>M.</given-names></name></name-alternatives><bio xml:lang="en"><p>Department of Bioinformatics, College of Life Sciences,</p><p>Hangzhou</p></bio><email xlink:type="simple">mchen@zju.edu.cn</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>Бай</surname><given-names>Х.</given-names></name><name name-style="western" xml:lang="en"><surname>Bai</surname><given-names>H.</given-names></name></name-alternatives><bio xml:lang="en"><p>Tongliao</p></bio><email xlink:type="simple">hh_bai@163.com</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Национальный университет Внутренней Монголии, Тунляо<country>Китай</country></aff><aff xml:lang="en">Inner Mongolia University for the Nationalities<country>China</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru">Федеральный исследовательский центр Институт цитологии и генетики&#13;
Сибирского отделения Российской академии наук;&#13;
Новосибирский государственный университет<country>Россия</country></aff><aff xml:lang="en">Institute of Cytology and Genetics SB RAS;&#13;
Novosibirsk State University<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru">Федеральный исследовательский центр Институт цитологии и генетики&#13;
Сибирского отделения Российской академии наук, Новосибирск<country>Россия</country></aff><aff xml:lang="en">Institute of Cytology and Genetics SB RAS<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru">Национальный университет Внутренней Монголии, Тунляо&#13;
Колледж Северной Вирджинии, Вирджиния<country>Китай</country></aff><aff xml:lang="en">Inner Mongolia University for the Nationalities;&#13;
Northern Virginia Community College<country>China</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru">Отдел биоинформатики, Колледж естественных наук, Университет&#13;
Чжецзян, Ханчжоу<country>Китай</country></aff><aff xml:lang="en">Zhejiang University<country>China</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>01</day><month>11</month><year>2017</year></pub-date><volume>21</volume><issue>5</issue><fpage>581</fpage><lpage>587</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; У Ч., У Х., Орлов Ю.Л., Гегентана Г., Хуо В., Брагин А.О., У Н., Суялату С., Жао Ф., Жао Ж., Табиханова Л.Э., Чен М., Бай Х., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">У Ч., У Х., Орлов Ю.Л., Гегентана Г., Хуо В., Брагин А.О., У Н., Суялату С., Жао Ф., Жао Ж., Табиханова Л.Э., Чен М., Бай Х.</copyright-holder><copyright-holder xml:lang="en">Wu Q., Wu H., Orlov Y.L., Gegentana G., Huo W., Bragin A.O., Wu N., Suyalatu S., Zhao F., Zhao J., Tabikhanova L.E., Chen M., Bai H.</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/1144">https://vavilov.elpub.ru/jour/article/view/1144</self-uri><abstract><p>Ишемический инсульт, вызванный прерыванием потока крови в мозг, представляет серьезную медицинскую проблему, являясь фактором риска смерти и потери трудоспособности. Недавние исследования геномных ассоциаций (genome-wide association studies – GWAS) определили более 40 общих вариантов геномных последовательностей, связанных с ишемическим инсультом. Однако результаты не могут быть одинаково применимы для различных мировых популяций. В данной работе мы рассматриваем гипотезу о том, что население Северной Азии, живущее в суровых условиях окружающей среды, может иметь уникальный спектр генов риска развития заболеваний сердечно-сосудистой системы. Исследованы гены-кандидаты предрасположенности к ишемическому инсульту в популяции монголов Китая, которая не была изучена ранее. В исследование были включены в общей сложности 167 больных с инсультом и 176 здоровых лиц. Генотипирование выполнено с помощью секвенирования ампликонов. Обнаружена ассоциация развития ишемического инсульта с одиночными нуклеотидными полиморфизмами в генах NINJ2 (rs12425791) и ALDH2 (rs2238151), а также в межгенном участке rs9536591. Среди генов-кандидатов наибольший вклад в развитие инсульта вносит NINJ2 (rs12425791). Ген ALDH2 кодирует митохондриальный фермент альдегиддегидрогеназу, вовлеченную в оксидативный путь метаболизма алкоголя. Пол, возраст, индекс массы тела и высокое кровяное давление также могут быть факторами риска. Данная работа показала существующую гетерогенность между китайской и другими популяционными выборками. Наше исследование предлагает новый взгляд на взаимодействие генотипа и факторов окружающей среды при развитии ишемического инсульта в монгольском населении.</p></abstract><trans-abstract xml:lang="en"><p>Ischemic stroke is caused by an interruption in the flow of blood to the brain and a risk factor for death and disability. Recent genome-wide association studies have identified more than 40 common sequence variants associated with ischemic stroke. However, the results are not always the same in populations with different genetic backgrounds. In the present study, we evaluated a hypothesis that a North Asian population living in a geographic area with unusually harsh environmental conditions would develop unique genetic risks. We investigated the candidate genes for ischemic stroke and risk factors in a Chinese Mongolian population which has not been explored previously. A total of 167 stroke cases and 176 controls were included in the study. Genotyping was performed by amplicon sequencing. The association was detected with single nucleotide polymorphisms (SNPs) located within genes NINJ2 (rs12425791) and ALDH2 (rs2238151) as well as intergenic rs9536591 were significantly associated with ischemic stroke, of which SNP rs12425791 of the NINJ2 gene was the strongest association. ALDH2 gene encodes mitochondrial aldehyde dehydrogenase, involved in the oxidative pathway of alcohol metabolism. Sex, age, body mass index and high blood pressure might be the risk factors. The current work also demonstrated genetic heterogeneity exists between Chinese and other populations. Our study provided the new insights into the genetic basis and environmental factors of ischemic stroke in Mongolian population.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>популяционная генетика</kwd><kwd>геном человека</kwd><kwd>однонуклеотидные замены</kwd><kwd>монгольская популяция Китая</kwd><kwd>ишемический инсульт</kwd></kwd-group><kwd-group xml:lang="en"><kwd>population genetics</kwd><kwd>human genome</kwd><kwd>SNPs</kwd><kwd>Chinese Mongolian population</kwd><kwd>ischemic stroke</kwd></kwd-group><funding-group xml:lang="ru"><funding-statement>L.P. Osipova and V.N. Babenko; National Natural Science Foundation of China; NSFC-RFBR Cooperation and Exchange Projects; Scientific Research Project of Inner Mongolia University for Nationalities (NMD1321) and Science and Technology Program Project of Inner Mongolia Autonomous Region (YY150002); ICG SB RAS budget project 0324-2016-0003 and RFBR project 15-54-53091</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">Adibhatla R.M., Hatcher J. Altered lipid metabolism in brain injury and disorders. Subcell Biochem. 2008;49:241-268. DOI 10.1007/978-1- 4020-8831-5_9.</mixed-citation><mixed-citation xml:lang="en">Adibhatla R.M., Hatcher J. Altered lipid metabolism in brain injury and disorders. Subcell Biochem. 2008;49:241-268. 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