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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">pediatricjournal</journal-id><journal-title-group><journal-title xml:lang="ru">Архив педиатрии и детской хирургии</journal-title><trans-title-group xml:lang="en"><trans-title>Archives of Pediatrics and Pediatric Surgery</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2949-4664</issn><issn pub-type="epub">3033-6783</issn><publisher><publisher-name>НИКИ детства Минздрава Московской области</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.31146/2949-4664-apps-3-2-25-32</article-id><article-id custom-type="elpub" pub-id-type="custom">pediatricjournal-160</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 СТАТЬИ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL ARTICLES</subject></subj-group></article-categories><title-group><article-title>Влияние гена COL1A1 на формирование остеопении у недоношенных детей, рожденных методом экстракорпорального оплодотворения</article-title><trans-title-group xml:lang="en"><trans-title>The effect of the COL1A1 gene on osteopenia in preterm infants conceived via in vitro fertilization</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9037-7124</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мерзлякова</surname><given-names>Д. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Merzlyakova</surname><given-names>D. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мерзлякова Динара Рафкатовна, к.м.н., ассистент кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Dinara R. Merzlyakova, Cand. Sci. (Med.), Аssist. Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">Dinara-merzlykova@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/0000-0002-1452-9998</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хафизова</surname><given-names>Н. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Khafizova</surname><given-names>N. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Хафизова Наиля Римовна, к.м.н., доцент кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Nailya R. Khafizova, Cand. Sci. (Med.), Assoc. Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">nailjak@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/0000-0001-9452-0901</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Вахитова</surname><given-names>Г. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vakhitova</surname><given-names>G. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Вахитова Гульназ Абрековна, к.м.н., доцент кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Gulnaz A. Vakhitova, Cand. Sci. (Med.), Assoc. Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">vgafn@bk.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/0000-0001-6357-0789</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шагарова</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Shagarova</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шагарова Сания Валеевна, д.м.н., профессор кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Saniya V. Shagarova, Dr. Sci. (Med.), Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">Valeeva-47@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/0000-0002-6735-4896</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Имаева</surname><given-names>Л. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Imaeva</surname><given-names>L. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Имаева Лилия Разифовна, к.м.н., доцент кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Lilia R. Imaeva, Cand. Sci. (Med.), Assoc. Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">Liliya@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/0000-0002-2914-8290</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гатиятуллин</surname><given-names>Р. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Gatiyatullin</surname><given-names>R. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гатиятуллин Радик Фидагиевич, д.м.н., профессор кафедры госпитальной педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Radik F. Gatiyatullin, Dr. Sci. (Med.), Prof., Department of Hospital Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">radikfidaqi@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/0009-0005-2151-8428</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гатиятуллина</surname><given-names>Л. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Gatiyatullina</surname><given-names>L. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гатиятуллина Ляйсан Радиковна, к.м.н., доцент кафедры педиатрии</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Laysan R. Gatiyatullina, Cand. Sci. (Med.), Assoc. Prof., Department of Pediatrics</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">ley-syan@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/0000-0002-6943-3096</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Назарова</surname><given-names>А. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Nazarova</surname><given-names>A. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Назарова Альфия Идрисовна, к.м.н., доцент кафедры сестринского дела и паллиативной помощи</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Alfiya I. Nazarova, Cand. Sci. (Med.), Assoc. Prof., Department of Nursing and Palliative Care</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">Oleg.naz81@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/0000-0001-8745-9989</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шангареева</surname><given-names>З. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Shangareeva</surname><given-names>Z. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шангареева Зилия Асгатовна, к.м.н., доцент кафедры факультетской педиатрии с курсами педиатрии, неонатологии и симуляционным центром</p><p>ул. Ленина, д. 3, г. Уфа, 450008</p></bio><bio xml:lang="en"><p>Ziliya A. Shangareeva, Cand. Sci. (Med.), Assoc. Prof., Department of Theoretical Pediatrics with courses in Pediatrics and Neonatology</p><p>3 Lenin St., Ufa, 450008</p></bio><email xlink:type="simple">shangareeva2001@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России</institution></aff><aff xml:lang="en"><institution>Bashkir State Medical University</institution></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>28</day><month>12</month><year>2025</year></pub-date><volume>3</volume><issue>2</issue><fpage>25</fpage><lpage>32</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Мерзлякова Д.Р., Хафизова Н.Р., Вахитова Г.А., Шагарова С.В., Имаева Л.Р., Гатиятуллин Р.Ф., Гатиятуллина Л.Р., Назарова А.И., Шангареева З.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Мерзлякова Д.Р., Хафизова Н.Р., Вахитова Г.А., Шагарова С.В., Имаева Л.Р., Гатиятуллин Р.Ф., Гатиятуллина Л.Р., Назарова А.И., Шангареева З.А.</copyright-holder><copyright-holder xml:lang="en">Merzlyakova D.R., Khafizova N.R., Vakhitova G.A., Shagarova S.V., Imaeva L.R., Gatiyatullin R.F., Gatiyatullina L.R., Nazarova A.I., Shangareeva Z.A.</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://journal.nikid.ru/jour/article/view/160">https://journal.nikid.ru/jour/article/view/160</self-uri><abstract><sec><title>Введение</title><p>Введение. Остеопения — патологическое состояние, которое чаще выявляется у преждевременно родившихся новорожденных с массой тела при рождении менее 1500 г, характеризуется не только недостаточностью витамина D, но и нехваткой кальция и фосфора. Знание наследственных факторов риска низкого уровня витамина D3 может иметь большое практическое значение для прогнозирования нарушений костного метаболизма у недоношенных детей.</p><p>Целью данного исследования явилось изучение связи между генотипическими и аллельными частотами полиморфных вариантов rs1800012 в гене COL1A1 и предрасположенностью к остеопении у недоношенных детей, зачатых с помощью искусственного оплодотворения.</p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. Под наблюдением находились 225 недоношенных детей, которых разделили на две различные категории в зависимости от способа зачатия. В основную категорию вошли дети, рожденные с помощью метода экстракорпорального оплодотворения (ЭКО), а в контрольную — дети, зачатые естественным путем. Основное внимание было уделено анализу гена COL1A1 в этих группах наблюдения.</p></sec><sec><title>Результаты</title><p>Результаты. В когорте недоношенных детей, зачатых с помощью ЭКО, выявлено значительное повышение генотипа Т/Т (χ2 = 8,13, p = 0,0053) и непротективного аллеля Т (χ2 = 7,15, p = 0,0083) в пределах полиморфного варианта rs1800012 гена COL1A1. Встречаемость угрозы развития остеопении по варианту rs1800012 в гене COL1A1 была выявлена у 46% детей в основной группе (ЭКО) и у 34% — в контрольной группе.</p></sec><sec><title>Выводы</title><p>Выводы. Выявленные генетические различия являются наследственными и не связаны с самой процедурой ЭКО. Выяснение генетических детерминант может сыграть ключевую роль в прогнозировании остеопении у недоношенных детей.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Background</title><p>Background. Osteopenia is a pathological conditionmore most often observed in preterm newborns with a birth weight under 1500 g. It is characterized not only by vitamin D deficiency but also by insufficent calcium and phosphorous levels. Understanding hereditary risk factors for low vitamin D3 may have great practical value for predicting bone metabolism disorders in preterm infants.</p></sec><sec><title>Objective</title><p>Objective. This study aimed to investigate the association between genotypic and allelic frequencies of rs1800012 polymorphism in the COL1A1 gene and predisposition to osteopenia in preterm infants conceived through artificial insemination.</p></sec><sec><title>Material and methods</title><p>Material and methods. The study involved 225 preterm babies divided into two categories depending on the method of conception. The main consisted of children conceived via in vitro fertilization (IVF), while the control category included children conceived naturally. The analysis focused mainly on the COL1A1 gene in these observation groups.</p></sec><sec><title>Results</title><p>Results. In a cohort of preterm infants conceived by IVF, there was a significant increase in homogeneity of T/T genotype (χ2 = 8.13, p = 0.0053) and in the non-protective T allele (χ2 = 7.15, p = 0.0083) within the polymorphic variant rs1800012 of the COL1A1 gene. The risk of osteopenia associated with the rs1800012 variant was identified in 46% of children in the IVF group and in 34% of children in the control group.</p></sec><sec><title>Conclusion</title><p>Conclusion. The identified genetic differences are hereditary and are not associated with the IVF procedure itself. Understanding the genetic determinants that contribute to decreased vitamin D3 may play a key role in predicting osteopenia in preterm infants.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>недоношенные дети</kwd><kwd>экспрессия генов</kwd><kwd>наследственность</kwd><kwd>витамин D</kwd><kwd>аллели</kwd></kwd-group><kwd-group xml:lang="en"><kwd>preterm infants</kwd><kwd>gene expression</kwd><kwd>heredity</kwd><kwd>vitamin D</kwd><kwd>alleles</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">Abrams S.A. Calcium and vitamin D requirements of enterally fed preterm infants. Pediatrics. 2013;131(5):e1676–1683. doi: 10.1542/peds.</mixed-citation><mixed-citation xml:lang="en">Abrams S.A.; Committee on Nutrition. Calcium and vitamin D requirements of enterally fed preterm infants. Pediatrics. 2013 May;131(5):e1676-83. doi: 10.1542/peds.2013-0420. Epub 2013 Apr 29. 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