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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/VJ21.097</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-3202</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>Вовлеченность генов KIBRA и APOE в формирование особенностей пространственного мышления человека</article-title><trans-title-group xml:lang="en"><trans-title>The role of the KIBRA and APOE genes in developing spatial abilities 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/0000-0002-3744-8058</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Казанцева</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kazantseva</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p></bio><email xlink:type="simple">Kazantsa@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/0000-0002-4301-5283</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Еникеева</surname><given-names>Р. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Enikeeva</surname><given-names>R. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3508-4710</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Давыдова</surname><given-names>Ю. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Davydova</surname><given-names>Yu. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4091-382X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мустафин</surname><given-names>Р. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Mustafin</surname><given-names>R. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3609-1971</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тахирова</surname><given-names>З. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Takhirova</surname><given-names>Z. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3786-7447</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Малых</surname><given-names>С. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Malykh</surname><given-names>S. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва, Россия</p></bio><bio xml:lang="en"><p>Moscow, Russia</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0318-6480</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лобаскова</surname><given-names>М. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Lobaskova</surname><given-names>M. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва, Россия</p></bio><bio xml:lang="en"><p>Moscow, Russia</p></bio><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6748-763X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тихомирова</surname><given-names>Т. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Tikhomirova</surname><given-names>T. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва, Россия</p></bio><bio xml:lang="en"><p>Moscow, Russia</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2987-3334</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Уфа, Россия</p><p>Москва, Россия</p></bio><bio xml:lang="en"><p>Ufa, Russia</p><p>Moscow, Russia</p></bio><xref ref-type="aff" rid="aff-7"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Институт биохимии и генетики – обособленное структурное подразделение Уфимского федерального исследовательского центра Российской академии наук; Уфимский государственный нефтяной технический университет, кафедра молекулярных технологий<country>Россия</country></aff><aff xml:lang="en">Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Ufa State Petroleum Technological University, Department of molecular technologies<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru">Институт биохимии и генетики – обособленное структурное подразделение Уфимского федерального исследовательского центра Российской академии наук<country>Россия</country></aff><aff xml:lang="en">Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru">Башкирский государственный медицинский университет, кафедра медицинской генетики и фундаментальной медицины<country>Россия</country></aff><aff xml:lang="en">Bashkir State Medical University, Department of medical genetics and fundamental medicine<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru">Башкирский государственный университет, кафедра генетики и фундаментальной медицины<country>Россия</country></aff><aff xml:lang="en">Bashkir State University, Department of genetics and fundamental medicine<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru">Психологический институт Российской академии образования; Московский государственный университет им. M.В. Ломоносова, факультет психологии<country>Россия</country></aff><aff xml:lang="en">Psychological Institute of the Russian Academy of Education; Lomonosov Moscow State University, Department of psychology<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru">Психологический институт Российской академии образования<country>Россия</country></aff><aff xml:lang="en">Psychological Institute of the Russian Academy of Education<country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-7"><aff xml:lang="ru">Институт биохимии и генетики – обособленное структурное подразделение Уфимского федерального исследовательского центра Российской академии наук; Московский государственный университет им. M.В. Ломоносова, факультет психологии<country>Россия</country></aff><aff xml:lang="en">Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Lomonosov Moscow State University, Department of psychology<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2021</year></pub-date><pub-date pub-type="epub"><day>01</day><month>01</month><year>2022</year></pub-date><volume>25</volume><issue>8</issue><fpage>839</fpage><lpage>846</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Казанцева А.В., Еникеева Р.Ф., Давыдова Ю.Д., Мустафин Р.Н., Тахирова З.Р., Малых С.Б., Лобаскова М.М., Тихомирова Т.Н., Хуснутдинова Э.К., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Казанцева А.В., Еникеева Р.Ф., Давыдова Ю.Д., Мустафин Р.Н., Тахирова З.Р., Малых С.Б., Лобаскова М.М., Тихомирова Т.Н., Хуснутдинова Э.К.</copyright-holder><copyright-holder xml:lang="en">Kazantseva A.V., Enikeeva R.F., Davydova Y.D., Mustafin R.N., Takhirova Z.R., Malykh S.B., Lobaskova M.M., Tikhomirova T.N., Khusnutdinova E.K.</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/3202">https://vavilov.elpub.ru/jour/article/view/3202</self-uri><abstract><p>В современном высокотехнологичном обществе пространственные способности являются предиктором успешности в жизни и профессиональной деятельности, особенно в STEM дисциплинах (от англ. Science, Technology, Engineering, and Mathematics). Согласно нейробиологическим гипотезам, существование индивидуальных различий в когнитивных способностях может быть обусловлено особенностями функцио нирования генов, участвующих в регуляции нейрогенеза и синаптической пластичности. С другой стороны, полногеномный анализ ассоциаций идентифицировал rs17070145 в гене KIBRA, ассоциированный с индивидуальными различиями в эпизодической памяти. Учитывая важную роль генетической и средовой компоненты в манифестации когнитивных функций, целью настоящего исследования являлись оценка основного эффекта полиморфных вариантов генов NGF (rs6330), NRXN1 (rs1045881, rs4971648), KIBRA (rs17070145), NRG1 (rs6994992), BDNF (rs6265), GRIN2B (rs3764030), APOE (rs7412, rs429358), SNAP25 (rs363050) и оценка ген-средовых взаимодействий в формировании индивидуальных особенностей пространственного мышления у индивидов без когнитивных нарушений 18–25 лет (N = 1011, 80 % женщин). Измерение уровня пространственных способностей осуществлялось с помощью батареи тестовых заданий на вращение 3D фигур (shape rotation). Множественный линейный регрессионный анализ, проведенный в общей выборке с включением половой, этнической принадлежности и наличия «рискового» аллеля АРОЕ ε4 в качестве ковариат, продемонстрировал ассоциацию аллеля rs17070145*Т в гене KIBRA с более высоким уровнем пространственного мышления (β = 1.32; pFDR = 0.037) по сравнению с носителями генотипа rs17070145*СС. Анализ ген-средовых взаимодействий выявил, что табакокурение (β = 3.74; р = 0.010) и место воспитания в детстве (β = –6.94; p = 0.0002) модулируют ассоциацию полиморфных вариантов в гене KIBRA (rs17070145) и гене АРОЕ (rs7412, rs429358) с индивидуальными различиями в пространственных способностях соответственно. Полученные результаты подтверждают связь аллеля rs17070145*Т в гене KIBRA с улучшением когнитивных функций и впервые свидетельствуют об ассоциации данного генетического варианта с особенностями пространственного мышления. «Протективный» эффект аллеля APOE ε2 на улучшение когнитивного функционирования наблюдается только при сочетании определенных особенностей воспитания в детстве.</p></abstract><trans-abstract xml:lang="en"><p>In the contemporary high-tech society, spatial abilities predict individual life and professional success, especially in the STEM (Science, Technology, Engineering, and Mathematics) disciplines. According to neurobiological hypotheses, individual differences in cognitive abilities may be attributed to the functioning of genes involved in the regulation of neurogenesis and synaptic plasticity. In addition, genome-wide association studies identified rs17070145 located in the KIBRA gene, which was associated with individual differences in episodic memory. Considering a significant role of genetic and environmental components in cognitive functioning, the present study aimed to estimate the main effect of NGF (rs6330), NRXN1 (rs1045881, rs4971648), KIBRA (rs17070145), NRG1 (rs6994992), BDNF (rs6265), GRIN2B (rs3764030), APOE (rs7412, rs429358), and SNAP25 (rs363050) gene polymorphisms and to assess the effect of gene-environment interactions on individual differences in spatial ability in individuals without cognitive decline aged 18–25 years (N = 1011, 80 % women). Spatial abilities were measured using a battery of cognitive tests including the assessment of “3D shape rotation” (mental rotation). Multiple regression analysis, which was carried out in the total sample controlling for sex, ethnicity and the presence of the “risk” APOE ε4 allele, demonstrated the association of the rs17070145 Т-allele in the KIBRA gene with enhanced spatial ability (β = 1.32; pFDR = 0.037) compared to carriers of the rs17070145 CC-genotype. The analysis of gene-environment interactions revealed that nicotine smoking (β = 3.74; p = 0.010) and urban/rural residency in childhood (β = –6.94; p = 0.0002) modulated the association of KIBRA rs17070145 and АРОЕ (rs7412, rs429358) gene variants with individual differences in mental rotation, respectively. The data obtained confirm the effect of the KIBRA rs17070145 Т-allele on improved cognitive functioning and for the first time evidence the association of the mentioned genetic variant with spatial abilities in humans. A “protective” effect of the APOE ε2 allele on enhanced cognitive functioning is observed only under certain conditions related to childhood rearing.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>KIBRA</kwd><kwd>APOE</kwd><kwd>когнитивные способности</kwd><kwd>мысленное вращение предметов</kwd><kwd>линейная регрессия</kwd><kwd>ген-средовые взаимодействия</kwd></kwd-group><kwd-group xml:lang="en"><kwd>KIBRA</kwd><kwd>APOE</kwd><kwd>cognitive abilities</kwd><kwd>mental rotation</kwd><kwd>linear regression</kwd><kwd>gene-environment interactions</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>The study was partially supported by the Russian Science Foundation (project no.17-78-30028) in the part of psychological assessment and collection of biological materials, by the Ministry of Science and Higher Education of Russian Federation (project no. 075-15-2021-595) in the part of statistical and bioinformatics analysis and by the mega-grant of the Ministry of Science and Higher Education of the Republic of Bashkortostan in the part of genetic analysis</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">Cherrie M.P.C., Shortt N.K., Mitchell R.J., Taylor A.M., Redmond P., Thompson C.W., Starr J.M., Deary I.J., Pearce J.R. 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