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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">cardiovascular</journal-id><journal-title-group><journal-title xml:lang="ru">Кардиоваскулярная терапия и профилактика</journal-title><trans-title-group xml:lang="en"><trans-title>Cardiovascular Therapy and Prevention</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1728-8800</issn><issn pub-type="epub">2619-0125</issn><publisher><publisher-name>«SILICEA-POLIGRAF» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.15829/1728-8800-2023-3755</article-id><article-id custom-type="edn" pub-id-type="custom">KRICJP</article-id><article-id custom-type="elpub" pub-id-type="custom">cardiovascular-3755</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>ИССЛЕДОВАНИЯ И РЕГИСТРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REGISTERS AND STUDIES</subject></subj-group></article-categories><title-group><article-title>Валидация шкал генетического риска ожирения на выборке населения регионов России</article-title><trans-title-group xml:lang="en"><trans-title>Validation of genetic risk scores for obesity on a sample of the population of Russian regions</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4765-8021</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Киселева</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kiseleva</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Анна Витальевна Киселева — кандидат биологических наук, ведущий научный сотрудник, руководитель лаборатории молекулярной генетики Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">sanyutabe@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0703-146X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сопленкова</surname><given-names>А. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Soplenkova</surname><given-names>A. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Анна Глебовна Сопленкова — лаборант отдела эпидемиологии хронических неинфекционных заболеваний, лаборатория биостатистики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">anna.mail10@mail.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/0000-0001-9844-3122</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Куценко</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kutsenko</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Владимир Александрович Куценко — старший научный сотрудник отдела эпидемиологии хронических неинфекционных заболеваний, лаборатория биостатистики, аспирант, Механико-математический факультет.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">vlakutsenko@ya.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8395-4146</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сотникова</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Sotnikova</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Евгения Андреевна Сотникова — старший научный сотрудник лаборатории молекулярной генетики Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">sotnikova.evgeniya@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9056-8796</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Вяткин</surname><given-names>Ю. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Vyatkin</surname><given-names>Yu. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Юрий Викторович Вяткин — программист лаборатории геномной и медицинской биоинформатики Института персонализированной терапии и профилактики, старший научный сотрудник, Институт перспективных исследований проблем искусственного интеллекта и интеллектуальных систем.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">vyatkin@gmail.com</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0723-0493</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Жарикова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zharikova</surname><given-names>А. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Анастасия Александровна Жарикова — кандидат биологических наук, ведущий научный сотрудник лаборатории молекулярной генетики Института персонализированной терапии и профилактики старший преподаватель, Факультет биоинженерии и биоинформатики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">azharikova89@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7989-0760</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ершова</surname><given-names>А. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Ershova</surname><given-names>A. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Александра Игоревна Ершова — доктор медицинских наук, зам. директора по фундаментальной науке, руководитель лаборатории клиномики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">alersh@mail.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/0000-0002-2798-9811</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зайченока</surname><given-names>М.</given-names></name><name name-style="western" xml:lang="en"><surname>Zaichenoka</surname><given-names>M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мария Зайченока — аспирант.</p><p>Московская область, Долгопрудный</p></bio><bio xml:lang="en"><p>Moscow region, Dolgoprudny</p></bio><email xlink:type="simple">marija.zaicenoka@gmail.com</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7867-9509</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Раменский</surname><given-names>В. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Ramensky</surname><given-names>V. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Василий Евгеньевич Раменский — кандидат физико-математических наук, ведущий научный сотрудник, руководитель лаборатории геномной и медицинской биоинформатики Института персонализированной терапии и профилактики, ведущий научный сотрудник, Институт перспективных исследований проблем искусственного интеллекта и интеллектуальных систем, доцент, Факультет биоинженерии и биоинформатики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">VRamensky@gnicpm.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3755-0279</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Скирко</surname><given-names>О. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Skirko</surname><given-names>O. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ольга Петровна Скирко — младший научный сотрудник лаборатории молекулярной генетики Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">ops_70@mail.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/0000-0003-3755-0279</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сметнев</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Smetnev</surname><given-names>S. А.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Степан Александрович Сметнев — младший научный сотрудник отдела персонализированной диагностики, профилактики и терапии атеросклеротических сердечно-сосудистых заболеваний Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">stefancom@mail.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/0000-0001-5397-5387</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Копылова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kopylova</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Оксана Викторовна Копылова — кандидат медицинских наук, старший научный сотрудник лаборатории клиномики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">sivoksana@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/0000-0003-1500-3696</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лимонова</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Limonova</surname><given-names>А. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Алена Сергеевна Лимонова — научный сотрудник лаборатории клиномики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">limonova-alena@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/0000-0002-3019-3961</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Блохина</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Blokhina</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Анастасия Викторовна Блохина — кандидат медицинских наук, научный сотрудник лаборатории клиномики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">blokhina0310@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6985-7131</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Покровская</surname><given-names>М. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Pokrovskaya</surname><given-names>M. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мария Сергеевна Покровская — кандидат биологических наук, ведущий научный сотрудник, руководитель лаборатории "Банк биологического материала" Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">mpokrovskaia@list.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/0000-0003-2087-6483</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шальнова</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Shalnova</surname><given-names>S. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Светлана Анатольевна Шальнова — доктор медицинских наук, профессор, руководитель отдела эпидемиологии хронических неинфекционных заболеваний.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">SShalnova@gnicpm.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/0000-0001-5989-6233</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мешков</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Meshkov</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Алексей Николаевич Мешков — доктор медицинских наук, руководитель отдела персонализированной диагностики, профилактики и терапии атеросклеротических сердечно-сосудистых заболеваний, руководитель Института персонализированной терапии и профилактики.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">meshkov@lipidclinic.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/0000-0002-4453-8430</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Драпкина</surname><given-names>О. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Drapkina</surname><given-names>O. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Оксана Михайловна Драпкина — доктор медицинских наук, профессор, академик РАН, директор.</p><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><email xlink:type="simple">odrapkina@gnicpm.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ "Национальный медицинский исследовательский центр терапии и профилактической медицины" Минздрава России</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Therapy and Preventive Medicine</institution></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУ "Национальный медицинский исследовательский центр терапии и профилактической медицины" Минздрава России; ФГБОУ ВО "Московский государственный университет им. М. В. Ломоносова"</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Therapy and Preventive Medicine; Moscow State University</institution></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБУ "Национальный медицинский исследовательский центр терапии и профилактической медицины" Минздрава России; ФГБОУ ВО "Московский государственный университет им. М.В. Ломоносова"</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Therapy and Preventive Medicine; Moscow State University</institution></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГАОУ ВО "Московский  физико- технический институт (национальный исследовательский университет)"</institution></aff><aff xml:lang="en"><institution>Institute of Physics and Technology</institution></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>29</day><month>11</month><year>2023</year></pub-date><volume>22</volume><issue>10</issue><fpage>3755</fpage><lpage>3755</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Киселева А.В., Сопленкова А.Г., Куценко В.А., Сотникова Е.А., Вяткин Ю.В., Жарикова А.А., Ершова А.И., Зайченока М., Раменский В.Е., Скирко О.П., Сметнев С.А., Копылова О.В., Лимонова А.С., Блохина А.В., Покровская М.С., Шальнова С.А., Мешков А.Н., Драпкина О.М., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Киселева А.В., Сопленкова А.Г., Куценко В.А., Сотникова Е.А., Вяткин Ю.В., Жарикова А.А., Ершова А.И., Зайченока М., Раменский В.Е., Скирко О.П., Сметнев С.А., Копылова О.В., Лимонова А.С., Блохина А.В., Покровская М.С., Шальнова С.А., Мешков А.Н., Драпкина О.М.</copyright-holder><copyright-holder xml:lang="en">Kiseleva A.V., Soplenkova A.G., Kutsenko V.A., Sotnikova E.A., Vyatkin Y.V., Zharikova А.A., Ershova A.I., Zaichenoka M., Ramensky V.E., Skirko O.P., Smetnev S.А., Kopylova O.V., Limonova А.S., Blokhina A.V., Pokrovskaya M.S., Shalnova S.A., Meshkov A.N., Drapkina O.M.</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://cardiovascular.elpub.ru/jour/article/view/3755">https://cardiovascular.elpub.ru/jour/article/view/3755</self-uri><abstract><sec><title>Цель</title><p>Цель. На выборке населения двух регионов европейской части России провести валидацию и оценить точность 15 шкал генетического риска (ШГР) ожирения, созданных на популяциях европейского происхождения.</p></sec><sec><title>Материал и методы</title><p>Материал и методы. Генетическое тестирование было проведено с помощью секвенирования нового поколения на выборке населения регионов России (n=1179). В исследование было включено 15 ШГР развития ожирения, ассоциированных с индексом массы тела (ИМТ) или с соотношением окружности талии и бедер с поправкой на ИМТ (СТБимт).</p></sec><sec><title>Результаты</title><p>Результаты. Показано, что прогностическая сила 8 из 9 ШГР развития ожирения по показателю ИМТ сохраняется для выборки населения регионов России, а прогностическая сила 6 ШГР развития ожирения по показателю СТБимт ниже, чем в референсной выборке. Воспроизводимость ШГР увеличивается по мере увеличения объема исходных выборок и количества вариантов, включенных в ШГР. Таким образом, применение на российской популяции ШГР развития ожирения по показателю ИМТ, сконструированных на популяциях европейского происхождения, оправдано.</p></sec><sec><title>Заключение</title><p>Заключение. Впервые в России была проведена валидация 15 ШГР развития ожирения, разработанных на популяциях европейского происхождения. Полученные данные об эффективности рассматриваемых ШГР могут быть в будущем применены для улучшения прогнозирования риска развития ожирения и для профилактики этого комплексного заболевания в России.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Aim</title><p>Aim. To validate and evaluate the accuracy of 15 genetic risk scores (GRSs) for obesity, created in populations of European origin in the sample of two European Russia regions. Material and methods. Genetic testing has been performed using next generation sequencing on a sample from the Russian population (n=1179). The study included 15 GRS associated with body mass index (BMI) or waist-to-hip ratio adjusted for BMI (WHRadjBMI).</p></sec><sec><title>Results</title><p>Results. The predictive power of 8 out of 9 GRSs for obesity based on BMI remains the same for the Russian population. The predictive power of 6 GRSs for obesity based on WHRadjBMI is lower in the Russian population than in the reference sample. GRS reproducibility increases with the size of initial samples and number of variants included in the GRS increase. The use of GRSs for obesity based on BMI in the Russian population created on European populations is justified.</p></sec><sec><title>Conclusion</title><p>Conclusion. For the first time in Russia, 15 obesity GRSs developed in European populations have been validated. The data obtained on the effectiveness of the considered GRS can be used in the future to improve the obesity prediction and prevention in Russia.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>ожирение</kwd><kwd>шкала генетического риска</kwd><kwd>индекс массы тела</kwd><kwd>соотношение окружности талии и бедер</kwd><kwd>валидация</kwd></kwd-group><kwd-group xml:lang="en"><kwd>obesity</kwd><kwd>genetic risk score</kwd><kwd>body mass index</kwd><kwd>waist-to-hip ratio</kwd><kwd>validation</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Баланова Ю. А., Шальнова С. А., Деев А. Д. и др. Ожирение в российской популяции- распространенность и ассоциации с факторами риска хронических неинфекционных заболеваний. 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