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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">10.25557/2073-7998.2024.03.21-30</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2453</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>Генетические ассоциации между полиморфными локусами генов ферментов антиоксидантной защиты GPX4 (rs713041), GSTP1 (rs1695) и PON1 (rs662) и синдромом поликистозных яичников у российских женщин</article-title><trans-title-group xml:lang="en"><trans-title>Genetic Associations between polymorphic loci in the antioxidant enzyme genes GPX4 (rs713041), GSTP1 (rs1695), and PON1 (rs662) and Polycystic Ovary Syndrome in Russian women</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>Али</surname><given-names>Р. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Ali</surname><given-names>R. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006</p></bio><email xlink:type="simple">ruba.m.ali@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>Прокофьев</surname><given-names>В. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Prokofev</surname><given-names>V. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006</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>Ломтева</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Lomteva</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344068, г. Ростов-на-Дону, ул. Бодрая, влд. 90</p></bio><bio xml:lang="en"><p>90, Bodraya st., Rostov-on-Don,344068</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>Гутникова</surname><given-names>Л. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Gutnikova</surname><given-names>L. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42;</p><p>344034, г. Ростов-на-Дону, ул. Загорская, д. 23, к. А, офис 1</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006;</p><p>23A, Zagorskaya st., Rostov-on-Don, 344034</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Александрова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Aleksandrova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42;</p><p>344034, г. Ростов-на-Дону, ул. Загорская, д. 23, к. А, офис 1</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006;</p><p>23A, Zagorskaya st., Rostov-on-Don, 344034</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Аммар</surname><given-names>М. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Ammar</surname><given-names>M. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006</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>Шкурат</surname><given-names>Т. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Shkurat</surname><given-names>T. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>344006, г. Ростов-на-Дону, ул. Большая Садовая, д. 105/42;</p><p>344034, г. Ростов-на-Дону, ул. Загорская, д. 23, к. А, офис 1</p></bio><bio xml:lang="en"><p>105/42, Bolshaya Sadovaya st., Rostov-on-Don, 344006;</p><p>23A, Zagorskaya st., Rostov-on-Don, 344034</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Южный федеральный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Southern Federal University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Центр репродукции человека и ЭКО</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Center for Human Reproduction and IVF</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Южный федеральный университет;&#13;
Медицинский центр «Наука»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Southern Federal University;&#13;
Nauka Medical Center</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>12</day><month>07</month><year>2024</year></pub-date><volume>23</volume><issue>3</issue><fpage>21</fpage><lpage>30</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Али Р.М., Прокофьев В.Н., Ломтева С.В., Гутникова Л.В., Александрова А.А., Аммар М.Н., Шкурат Т.П., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Али Р.М., Прокофьев В.Н., Ломтева С.В., Гутникова Л.В., Александрова А.А., Аммар М.Н., Шкурат Т.П.</copyright-holder><copyright-holder xml:lang="en">Ali R.M., Prokofev V.N., Lomteva S.V., Gutnikova L.V., Aleksandrova A.A., Ammar M.N., Shkurat T.P.</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/2453">https://www.medgen-journal.ru/jour/article/view/2453</self-uri><abstract><p>Введение. Синдром поликистозных яичников (СПКЯ) является распространенным и сложным эндокринологическим заболеванием, с различными молекулярными фенотипами и коморбидными состояниями. Многочисленные исследования указывают на окислительный стресс как на ключевой фактор в развитии СПКЯ.Цель: исследовать ассоциации между полиморфными локусами генов ферментов антиоксидантной защиты GPX4 (rs713041), GSTP1 (rs1695) и PON1 (rs662) и риском развития СПКЯ.Методы: генотипирование проводили аллель специфическим методом ПЦР в реальном времени.Результаты. Анализ результатов генотипирования показал, что минорные аллели полиморфных локусов генов GPX4 (rs713041) и PON1 (rs662) ассоциированы с повышенным риском развития СПКЯ. В частности, наличие генотипа TT гена GPX4 (rs713041) и хотя бы одной копии аллеля С гена PON1 (rs662) было ассоциированно с повышенной предрасположенностью к СПКЯ.Выводы. Полиморфные варианты генов GPX4 (rs713041) и PON1 (rs662) могут служить факторами риска развития СПКЯ.</p></abstract><trans-abstract xml:lang="en"><p>Background. Polycystic ovary syndrome (PCOS) is a common and complex endocrinologic disease, with various molecular phenotypes and comorbid conditions. Numerous studies have highlighted oxidative stress as a pivotal factor in the development of PCOS.Aim: to investigate the associations between polymorphic loci of the genes of antioxidant defense enzymes GPX4 (rs713041), GSTP1 (rs1695) and PON1 (rs662) and the risk of developing PCOS.Methods. Genotyping analysis was performed by allele-specific method using real-time PCR.Results. Genotyping analysis revealed that the minor alleles of GPX4 (rs713041) and PON1 (rs662) polymorphic loci were associated with an increased risk of PCOS development. Specifically, the presence of the TT genotype of GPX4 (rs713041) and having at least one copy of the mutant allele of PON1 (rs662) were associated with elevated susceptibility to PCOS.Conclusions. Polymorphic variants of GPX4 (rs713041) and PON1 (rs662) genes might be a risk factor for PCOS development.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>СПКЯ</kwd><kwd>синдром поликистозных яичников</kwd><kwd>полиморфный локус</kwd><kwd>антиоксидантный фермент</kwd><kwd>GPX4</kwd><kwd>GSTP1</kwd><kwd>PON1</kwd></kwd-group><kwd-group xml:lang="en"><kwd>PCOS</kwd><kwd>Polycystic ovary Syndrome</kwd><kwd>polymorphic locus</kwd><kwd>antioxidant enzyme</kwd><kwd>GPX4</kwd><kwd>GSTP1</kwd><kwd>PON1</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено при финансовой поддержке гранта Российского научного фонда (РНФ) № 23-15-00464.</funding-statement><funding-statement xml:lang="en">This study was funded by the Russian Science Foundation (RSF) grant № 23-15-00464.</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">Murri M., Luque-Ramírez M., Insenser M., et al. 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