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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="en"><front><journal-meta><journal-id journal-id-type="publisher-id">akusherstvo</journal-id><journal-title-group><journal-title xml:lang="en">Obstetrics, Gynecology and Reproduction</journal-title><trans-title-group xml:lang="ru"><trans-title>Акушерство, Гинекология и Репродукция</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2313-7347</issn><issn pub-type="epub">2500-3194</issn><publisher><publisher-name>IRBIS LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.17749/2313-7347/ob.gyn.rep.2021.189</article-id><article-id custom-type="elpub" pub-id-type="custom">akusherstvo-1004</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="en"><subject>ОRIGINAL ARTICLES</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОРИГИНАЛЬНЫЕ СТАТЬИ</subject></subj-group></article-categories><title-group><article-title>Newborn weight is associated with the maternal F13A1 gene rs5985 polymorphism</article-title><trans-title-group xml:lang="ru"><trans-title>Вес новорожденного ассоциирован с полиморфизмом rs5985 гена F13A1 материнского организма</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8473-2601</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Головченко</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Golovchenko</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Головченко Олег Васильевич – к.м.н., доцент кафедры акушерства и гинекологии медицинского института</p><p>308007 Белгород, ул. Победы, д. 85</p></bio><bio xml:lang="en"><p>Oleg V. Golovchenko – MD, PhD, Associate Professor, Department of Obstetrics and Gynecology, Medical Institute</p><p>85 Pobedy Str., Belgorod 308007</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1406-2515</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Абрамова</surname><given-names>М. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Abramova</surname><given-names>M. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Абрамова Мария Юрьевна – аспирант кафедры медико-биологических дисциплин медицинского института</p><p>308007 Белгород, ул. Победы, д. 85</p></bio><bio xml:lang="en"><p>Maria Yu. Abramova – MD, Postgraduate Student, Department of Biomedical Disciplines, Medical Institute</p><p>85 Pobedy Str., Belgorod 308007</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5652-0166</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пономаренко</surname><given-names>И. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Ponomarenko</surname><given-names>I. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Пономаренко Ирина Васильевна – д.м.н., доцент кафедры медико-биологических дисциплин медицинского института</p><p>308007 Белгород, ул. Победы, д. 85</p></bio><bio xml:lang="en"><p>Irina V. Ponomarenko – MD, Dr Sci Med, Associate Professor, Department of Biomedical Disciplines, Medical Institute</p><p>85 Pobedy Str., Belgorod 308007</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1254-6134</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чурносов</surname><given-names>М. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Churnosov</surname><given-names>M. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Чурносов Михаил Иванович – д.м.н., профессор, зав. кафедрой медико-биологических дисциплин медицинского института</p><p>308007 Белгород, ул. Победы, д. 85</p></bio><bio xml:lang="en"><p>Mikhail I. Churnosov – MD, Dr Sci Med, Professor, Head of the Department of Biomedical Disciplines, Medical Institute</p><p>85 Pobedy Str., Belgorod 308007</p></bio><email xlink:type="simple">churnosov@bsu.edu.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГАОУ ВО «Белгородский государственный национальный исследовательский университет»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Belgorod State National Research University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2021</year></pub-date><pub-date pub-type="epub"><day>08</day><month>07</month><year>2021</year></pub-date><volume>15</volume><issue>3</issue><fpage>236</fpage><lpage>244</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Golovchenko O.V., Abramova M.Y., Ponomarenko I.V., Churnosov M.I., 2021</copyright-statement><copyright-year>2021</copyright-year><copyright-holder xml:lang="ru">Головченко О.В., Абрамова М.Ю., Пономаренко И.В., Чурносов М.И.</copyright-holder><copyright-holder xml:lang="en">Golovchenko O.V., Abramova M.Y., Ponomarenko I.V., Churnosov M.I.</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.gynecology.su/jour/article/view/1004">https://www.gynecology.su/jour/article/view/1004</self-uri><abstract><sec><title>Aim</title><p>Aim: to evaluate a relationship between newborn weight and single-nucleotide polymorphisms rs5918 ITGB3, rs1126643 ITGA2, rs5985 F13A1 in pregnant women with preeclampsia (PE) and fetal growth retardation (FGR).</p></sec><sec><title>Materials and Мethods</title><p>Materials and Мethods. In this prospective comparative study, molecular genetic testing for the three polymorphic loci of hereditary thrombophilia candidate genes – rs1126643 ITGA2, rs5918 ITGB3, and rs5985 F13A1 was performed in 70 pregnant women with PE and FGR. Newborn somatometry was performed using standard methods. To assess functional effects of the rs5985 polymorphism of the F13A1 gene associated with newborn weight, we applied online bioinformatic programs GTEx Portal and HaploReg (assessing a relationship between polymorphism and level of gene transcription and related epigenetic effects).</p></sec><sec><title>Results</title><p>Results. The rs5985 polymorphism of the maternal F13A1 gene is associated with newborn weight according to allelic (â = 156.60; pperm = 0.05) and additive (â = 155.20; pperm = 0.05) genetic models. The polymorphic locus rs5985 of the F13A1 gene is characterized by pronounced pleiotropic regulatory effects in vivo: it determines the amino acid substitution in the A1 subunit of coagulation factor XIII (Val35Leu), associated with the activity of blood clotting factor XIII, localized in the DNase 1 hypersensitivity region, determines DNA affinity to 11 transcription factors (AP-2, CACD, EBF, ERalpha-a, ESR2, Hic1, Klf4, Klf7, SP1, ESR1 and TFAP2C), located in the region of modified histones, marking enhancers and promoters in the culture of ectoderm, endoderm and mesoderm cells, placenta, fetal brain and adrenal glands, progenitor cells and myoblasts in skeletal muscle, adipocytes, brain etc.</p></sec><sec><title>Conclusion</title><p>Conclusion. The rs5985 polymorphism of the F13A1 gene in pregnant women with PE and FGR is associated with newborn weight.</p></sec></abstract><trans-abstract xml:lang="ru"><sec><title>Цель исследования</title><p>Цель исследования: оценить связь веса новорожденного с однонуклеотидными полиморфизмами rs5918 ITGB3, rs1126643 ITGA2, rs5985 F13A1 беременных с преэклампсией (ПЭ) и задержкой роста плода (ЗРП).</p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. В настоящем проспективном сравнительном исследовании у 70 беременных с ПЭ и ЗРП проведено молекулярно-генетическое исследование трех полиморфных локусов генов-кандидатов наследственных тромбофилий – rs1126643 ITGA2, rs5918 ITGB3 и rs5985 F13A1. Соматометрия новорожденных проведена стандартными методами. Для оценки функциональных эффектов полиморфизма rs5985 гена F13A1, ассоциированного с весом новорожденного, применялись он-лайн биоинформатические программы GTEx Portal и HaploReg (изучалась связь полиморфизма с уровнем транскрипции генов и его эпигенетические эффекты).</p></sec><sec><title>Результаты</title><p>Результаты. Полиморфизм rs5985 гена F13A1 материнского организма ассоциирован с весом новорожденных согласно аллельной (â = 156,60; рperm = 0,05) и аддитивной (â = 155,20; рperm = 0,05) генетическим моделям. Полиморфный локус rs5985 гена F13A1 характеризуется выраженными плейотропными регуляторными эффектами в организме: он определяет аминокислотную замену в А1 субъединице фактора коагуляции XIII (Val35Leu), связан с активностью XIII фактора свертывания крови, локализуется в области гиперчувствительности к ДНКазе 1, определяет аффинность ДНК к 11 факторам транскрипции (AP-2, CACD, EBF, ERalpha-a, ESR2, Hic1, Klf4, Klf7, SP1, ESR1 и TFAP2C), находится в регионе модифицированных гистонов, маркирующих энхансеры и промоторы в культуре клеток эктодермы, энтодермы и мезодермы, плаценты, головного мозга и надпочечников плода, предшественников клеток и миобластов скелетной мускулатуры, адипоцитов, головного мозга и др.</p></sec><sec><title>Заключение</title><p>Заключение. Полиморфизм rs5985 гена F13A1 у беременных с ПЭ и ЗРП ассоциирован с весом новорожденного.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>задержка роста плода</kwd><kwd>однонуклеотидный полиморфизм</kwd><kwd>ген F13A1</kwd><kwd>ассоциации</kwd><kwd>вес новорожденного</kwd><kwd>преэклампсия</kwd></kwd-group><kwd-group xml:lang="en"><kwd>fetal growth retardation</kwd><kwd>single-nucleotide polymorphism</kwd><kwd>F13A1 gene</kwd><kwd>associations</kwd><kwd>newborn weight</kwd><kwd>preeclampsia</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">Nardozza L.M.M., Caetano A.C.R., Zamarian A.C.P. et al. Fetal growth restriction: current knowledge. Arch Gynecol Obstet. 2017;295(5):1061–77. https://doi.org/10.1007/s00404-017-4341-9.</mixed-citation><mixed-citation xml:lang="en">Nardozza L.M.M., Caetano A.C.R., Zamarian A.C.P. et al. 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Research Journal of Pharmaceutical, Biological and Chemical Sciences. 2015;6(5):1563–6.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
