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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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.03.50-68</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2626</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>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Полиморфные варианты гена APOΕ (SNPs rs7412 и rs429358) в коренных популяциях Восточной и Южной Сибири</article-title><trans-title-group xml:lang="en"><trans-title>Polymorphism of the APOΕ gene, rs7412 C&gt;T (Arg158Cys) and rs429358 T&gt;C (Cys112Arg), in indigenous populations of Eastern and Southern Siberia</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>Тийс</surname><given-names>Р. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Tiis</surname><given-names>R. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, д. 10</p></bio><bio xml:lang="en"><p>10, Prospekt Lavrentyeva, Novosibirsk, 630090</p></bio><email xlink:type="simple">kruosana@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>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="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, д. 10</p></bio><bio xml:lang="en"><p>10, Prospekt Lavrentyeva, Novosibirsk, 630090</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>Личман</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Lichman</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, д. 10</p></bio><bio xml:lang="en"><p>10, Prospekt Lavrentyeva, Novosibirsk, 630090</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>Воронина</surname><given-names>Е. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Voronina</surname><given-names>E. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, 8</p></bio><bio xml:lang="en"><p>8, Prospekt Lavrentyeva, Novosibirsk, 630090</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Осипова</surname><given-names>Л. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Osipova</surname><given-names>L. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, д. 10</p></bio><bio xml:lang="en"><p>10, Prospekt Lavrentyeva, Novosibirsk, 630090</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>Филипенко</surname><given-names>М. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Filipenko</surname><given-names>M. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>630090, г. Новосибирск, пр. Ак. Лаврентьева, 8</p></bio><bio xml:lang="en"><p>8, Prospekt Lavrentyeva, Novosibirsk, 630090</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУН Институт химической биологии и фундаментальной медицины Сибирского отделения Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>12</day><month>05</month><year>2025</year></pub-date><volume>24</volume><issue>3</issue><fpage>50</fpage><lpage>68</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Тийс Р.П., Табиханова Л.Э., Личман Д.В., Воронина Е.Н., Осипова Л.П., Филипенко М.Л., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Тийс Р.П., Табиханова Л.Э., Личман Д.В., Воронина Е.Н., Осипова Л.П., Филипенко М.Л.</copyright-holder><copyright-holder xml:lang="en">Tiis R.P., Tabikhanova L.E., Lichman D.V., Voronina E.N., Osipova L.P., Filipenko M.L.</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.medgen-journal.ru/jour/article/view/2626">https://www.medgen-journal.ru/jour/article/view/2626</self-uri><abstract><p>Аполипопротеин Е участвует в метаболизме липидов и во многих других важных процессах в организме. Полиморфизм в гене APOΕ имеет огромное влияние на риск развития и тяжесть течения таких серьезных заболеваний, как болезнь Альцгеймера, гиперлипопротеинемия III типа, сердечно-сосудистые, онкологические и многие другие. Поэтому важность исследования этого полиморфизма в человеческих популяциях не вызывает сомнений. В данной работе представлены частоты встречаемости генотипов гена APOΕ и его полиморфных вариантов ε2, ε3, ε4 в 8 популяциях коренных народов, проживающих на территориях Восточной и Южной Сибири (якутов, бурятов, телеутов, долган, нганасан, русских). Проведены межпопуляционные сравнения между изученными нами и некоторыми мировыми популяциями.</p></abstract><trans-abstract xml:lang="en"><p>Apolipoprotein E is involved in lipid metabolism and many other important processes in the body. Polymorphism in the APOΕ gene has a huge impact on the risk of developing and severity of such serious diseases as Alzheimer’s disease, type III hyperproteinemia, cardiovascular, oncological and many others. Therefore, the importance of studying this polymorphism in human populations is undoubted. This paper presents the frequency of occurrence of APOΕ genotypes and its polymorphic variants ε2, ε3, ε4 in 8 populations of indigenous peoples living in Eastern and Southern Siberia (Yakuts, Buryats, Teleuts, Dolgans, Nganasans, Russians). Inter-population comparisons have been made between the populations studied by us and some of the world’s populations.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>аполипопротеин Е</kwd><kwd>холестерин</kwd><kwd>ЛПНП</kwd><kwd>rs7412 C &gt; T и rs429358 T &gt; C</kwd><kwd>ε2</kwd><kwd>ε3</kwd><kwd>ε4</kwd><kwd>нейродегенеративные заболевания</kwd><kwd>атеросклероз</kwd><kwd>гиперпротеинемия III</kwd><kwd>коренные народы Сибири</kwd></kwd-group><kwd-group xml:lang="en"><kwd>apolipoprotein E</kwd><kwd>cholesterol</kwd><kwd>LDL</kwd><kwd>rs7412 C &gt; T and rs429358 T &gt; C</kwd><kwd>ε2</kwd><kwd>ε3</kwd><kwd>ε4</kwd><kwd>neurodegenerative diseases</kwd><kwd>atherosclerosis</kwd><kwd>hyperproteinemia III</kwd><kwd>indigenous peoples of Siberia</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено в рамках государственного задания ИЦиГ СО РАН (№ FWNR-2022-0021). Авторы выражают благодарность к.б.н. Карафет Т. М., Вавиловой Н. А., Молетотовой Н. А., к.б.н. Сангаеву С. С. и Лихачевой А. О. за участие в экспедициях, а также к.б.н. Губиной М. А. за участие в экспедиции в Якутию и типировании выборки нганасан.</funding-statement><funding-statement xml:lang="en">The study was carried out within the framework of the state assignment for the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences (No. FWNR-2022-0021).</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">Mahley R.W. Apolipoprotein E: from cardiovascular disease to neurodegenerative disorders. J. Mol. Med. 2016;94:739-746. doi: 10.1007/s00109-016-1427-y.</mixed-citation><mixed-citation xml:lang="en">Mahley R.W. Apolipoprotein E: from cardiovascular disease to neurodegenerative disorders. J. Mol. 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