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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">diaendo</journal-id><journal-title-group><journal-title xml:lang="ru">Сахарный диабет</journal-title><trans-title-group xml:lang="en"><trans-title>Diabetes mellitus</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2072-0351</issn><issn pub-type="epub">2072-0378</issn><publisher><publisher-name>Endocrinology research centre</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14341/DM2014210-19</article-id><article-id custom-type="elpub" pub-id-type="custom">diaendo-6495</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>Генетика</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Genetics</subject></subj-group></article-categories><title-group><article-title>Значение результатов полногеномных исследований для первичной профилактики сахарного диабета 2 типа и его осложнений. Персонализированный подход</article-title><trans-title-group xml:lang="en"><trans-title>Significance of the results of genome-wide association studies for primary prevention of type 2 diabetes mellitus and its complications. Personalised approach</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>Дедов</surname><given-names>Иван Иванович</given-names></name><name name-style="western" xml:lang="en"><surname>Dedov</surname><given-names>Ivan Ivanovich</given-names></name></name-alternatives><bio xml:lang="ru"><p>Доктор медицинских наук, профессор, академик РАН, Директор ФГБУ "Эндокринологический научный центр" Минздрава России</p></bio><bio xml:lang="en"><p>MD, PhD, Professor, Member of Russian Academy of Sciences, Director of Endocrinology Research Centre (Moscow)</p></bio><email xlink:type="simple">dedov@endocrincentr.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>Смирнова</surname><given-names>Ольга Михайловна</given-names></name><name name-style="western" xml:lang="en"><surname>Smirnova</surname><given-names>Olga Mikhailovna</given-names></name></name-alternatives><bio xml:lang="ru"><p>доктор медицинских наук, профессор, главный научный сотрудник, отделение программного обучения и лечения, Институт диабета ФГБУ "Эндокринологический научный центр" Минздрава России</p></bio><bio xml:lang="en"><p>MD, PhD, Professor, Cheif Researcher in Programm Education and Treatment department in Diabetes Institute of Endocrinology Research Centre (Moscow)</p></bio><email xlink:type="simple">dr_smr@mail.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>Кононенко</surname><given-names>Ирина Владимировна</given-names></name><name name-style="western" xml:lang="en"><surname>Kononenko</surname><given-names>Irina Vladimirovna</given-names></name></name-alternatives><bio xml:lang="ru"><p>кандидат медицинских наук, ведущий научный сотрудник отделения программного обучения и лечения, Институт диабета ФГБУ "Эндокринологический научный центр" Минздрава России;ассистент кафедры эндокринологии и диабетологии педиатрического факультета ГБОУ ВПО Первый Московский Государственный Медицинский университет им. И.М. Сеченова</p></bio><bio xml:lang="en"><p>MD, PhD, Leading Researcher in Programm Education and Treatment department in Diabetes Institute of Endocrinology Research Centre (Moscow)</p></bio><email xlink:type="simple">shakhtarina@bk.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ "Эндокринологический научный центр" Минздрава России, Москва</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Endocrinology Research Centre, Moscow</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2014</year></pub-date><pub-date pub-type="epub"><day>21</day><month>04</month><year>2014</year></pub-date><volume>17</volume><issue>2</issue><fpage>10</fpage><lpage>19</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Дедов И.И., Смирнова О.М., Кононенко И.В., 2014</copyright-statement><copyright-year>2014</copyright-year><copyright-holder xml:lang="ru">Дедов И.И., Смирнова О.М., Кононенко И.В.</copyright-holder><copyright-holder xml:lang="en">Dedov I.I., Smirnova O.M., Kononenko I.V.</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://www.dia-endojournals.ru/jour/article/view/6495">https://www.dia-endojournals.ru/jour/article/view/6495</self-uri><abstract><p>Метод исследований общегеномных ассоциаций (Genome-Wide Association Studies ? GWAS) уверенно становится основой для поиска генов-кандидатов моногенных и мультифакторных заболеваний, включая сахарный диабет 1 и 2 типа, ишемическую болезнь сердца, ожирение, заболевания сосудов и другие. К настоящему времени открыто более 40 локусов, ассоциированных с сахарным диабетом 2 типа (СД2), установлены генетические факторы предрасположенности в отношении сердечно-сосудистых заболеваний. Результаты GWAS позволяют в ряде случаев не только понять патофизиологические основы заболеваний, но и могут служить толчком для создания новых лекарственных препаратов. Вместе с тем, закономерно возникает вопрос о возможности применения накопленных знаний для прогнозирования развития заболеваний, в том числе СД2 и его сосудистых осложнений. В обзоре представлены литературные данные о возможностях использования результатов GWAS для расчета риска развития СД и сердечно-сосудистых заболеваний. Определение индивидуального генетического риска позволит проводить первичную профилактику заболеваний и в ближайшее время, по всей видимости, будет являться основой персонализированной предиктивной медицины. </p></abstract><trans-abstract xml:lang="en"><p>The method of Genome-Wide Association Studies (GWAS) steadily becomes the basis for searching for candidate genes of monogenic and multifactorial diseases, including type 1 and 2 diabetes mellitus, coronary heart disease, obesity, vascular diseases, and others. To date, approximately 40 loci associated with type 2 diabetes mellitus (T2DM) have been identified and genetic predisposition factors for cardiovascular diseases have been determined. In some cases, the GWAS results not only enable understanding of the pathophysiologic basis for diseases, but also may give rise to new drugs. However, the question naturally arises about the possibility of implementing the accumulated knowledge to predict the development of diseases, including T2DM and its vascular complications. This review summarises the literature data on the possibilities to use the GWAS results to calculate the risk of developing diabetes and cardiovascular diseases. Determination of the individual genetic risk will allow for the primary prevention of diseases and will apparently be the basis of personalised predictive medicine in the near future. </p></trans-abstract><kwd-group xml:lang="ru"><kwd>сахарный диабет</kwd><kwd>сердечно-сосудистые заболевания</kwd><kwd>исследования общегеномных ассоциаций</kwd><kwd>риск развития</kwd><kwd>прогнозирование</kwd></kwd-group><kwd-group xml:lang="en"><kwd>diabetes mellitus</kwd><kwd>cardiovascular diseases</kwd><kwd>genome-wide association studies</kwd><kwd>risk of development</kwd><kwd>prediction</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">ФГБУ Эндокринологический научный центр, Москва</funding-statement><funding-statement xml:lang="en">Endocrinology Research Centre, Moscow</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">Доклад Первого заместителя председателя Комитета Государственной Думы по охране здоровья, заведующего кафедрой основ законодательства в здравоохранении Первого Московского медицинского университета имени И.М. 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