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<article article-type="review-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/VJGB-23-79</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-3940</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 ЧЕЛОВЕКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>HUMAN GENETICS</subject></subj-group></article-categories><title-group><article-title>Проблемы изучения направленного естественного отбора у человека</article-title><trans-title-group xml:lang="en"><trans-title>Problems with studying directional natural selection in humans</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0897-5473</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Михайлова</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Mikhailova</surname><given-names>S. V.</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">mikhail@bionet.nsc.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук<country>Россия</country></aff><aff xml:lang="en">Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>02</day><month>11</month><year>2023</year></pub-date><volume>27</volume><issue>6</issue><fpage>684</fpage><lpage>693</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Михайлова С.В., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Михайлова С.В.</copyright-holder><copyright-holder xml:lang="en">Mikhailova S.V.</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/3940">https://vavilov.elpub.ru/jour/article/view/3940</self-uri><abstract><p>В обзоре описаны основные методы оценки направленного отбора в популяциях человека. В их числе биоинформатический анализ последовательностей ДНК, основанный на выявлении неравновесия по сцеплению и отклонения от случайного распределения частот генетических вариантов; демографические и антропометрические исследования, заключающиеся в поиске корреляции рождаемости с фенотипическими признаками; полногеномные оценки ассоциаций фертильности с генетическими локусами и полигенными индексами, а также сравнение частот аллелей между поколениями (как в современных выборках, так и в полученных из захоронений ДНК). Каждый из этих подходов имеет свои ограничения и применим к разным периодам эволюции Homo sapiens. Основными источниками ошибок в таких исследованиях считаются стратификация выборок, ограниченное число исследований на неевропеоидном населении, невозможность полного сопоставления найденных ассоциаций и функционально значимых каузативных вариантов, а также сложность учета всех негенетических факторов, определяющих фертильность в современных популяциях. Полученные с помощью разных методов результаты свидетельствуют о том, что направление адаптации человека к новым для него пищевым продуктам не меняется в ходе эволюции с неолита; многие из вариантов генов иммунитета, ассоциированных в современных популяциях с воспалительными и аутоиммунными заболеваниями, подверглись положительному отбору в период последних 2–3 тыс. лет в связи с распространением бактериальных и вирусных инфекций. По некоторым генетическим вариантам и полигенным признакам показана смена направления естественного отбора на территории Европы, среди них связанные с иммунным ответом и когнитивными способностями. Анализ корреляции фертильности и уровня образования дает противоречивые результаты. В современных популяциях в большей степени, чем ранее, наблюдается отбор по вариантам генов, отвечающих за социальную адаптацию и поведенческие фенотипы. В том числе в нескольких работах показана положительная корреляция фертильности с полигенными индексами синдрома дефицита внимания/гиперактивности.</p></abstract><trans-abstract xml:lang="en"><p>The review describes the main methods for assessing directional selection in human populations. These include bioinformatic analysis of DNA sequences via detection of linkage disequilibrium and of deviations from the random distribution of frequencies of genetic variants, demographic and anthropometric studies based on a search for a correlation between fertility and phenotypic traits, genome-wide association studies on fertility along with genetic loci and polygenic risk scores, and a comparison of allele frequencies between generations (in modern samples and in those obtained from burials). Each approach has its limitations and is applicable to different periods in the evolution of Homo sapiens. The main source of error in such studies is thought to be sample stratification, the small number of studies on nonwhite populations, the impossibility of a complete comparison of the associations found and functionally significant causative variants, and the difficulty with taking into account all nongenetic determinants of fertility in contemporary populations. The results obtained by various methods indicate that the direction of human adaptation to new food products has not changed during evolution since the Neolithic; many variants of immunity genes associated with inflammatory and autoimmune diseases in modern populations have undergone positive selection over the past 2–3 thousand years owing to the spread of bacterial and viral infections. For some genetic variants and polygenic traits, an alteration of the direction of natural selection in Europe has been documented, e. g., for those associated with an immune response and cognitive abilities. Examination of the correlation between fertility and educational attainment yields conflicting results. In modern populations, to a greater extent than previously, there is selection for variants of genes responsible for social adaptation and behavioral phenotypes. In particular, several articles have shown a positive correlation of fertility with polygenic risk scores of attention deficit/hyperactivity disorder.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>естественный отбор</kwd><kwd>Homo sapiens</kwd><kwd>фертильность</kwd><kwd>адаптация</kwd><kwd>полигенный индекс</kwd><kwd>полногеномный анализ ассоциаций</kwd></kwd-group><kwd-group xml:lang="en"><kwd>natural selection</kwd><kwd>Homo sapiens</kwd><kwd>fertility</kwd><kwd>adaptation</kwd><kwd>polygenic index</kwd><kwd>genome-wide association study</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>This research was funded by Russian Science Foundation grant No. 22-28-00866. 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