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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">jofin</journal-id><journal-title-group><journal-title xml:lang="ru">Журнал инфектологии</journal-title><trans-title-group xml:lang="en"><trans-title>Journal Infectology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2072-6732</issn><publisher><publisher-name>IPO “АIDSSPbR"</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.22625/2072-6732-2024-16-4-68-77</article-id><article-id custom-type="elpub" pub-id-type="custom">jofin-1711</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>Оригинальное исследование</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>Идентификация редких однонуклеотидных генетических полиморфизмов в геноме госпитализированных больных COVID-19</article-title><trans-title-group xml:lang="en"><trans-title>Identification of rare single nucleotide polymorphisms in the genome of hospitalized COVID-19 patients</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>Передерий</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Perederiy</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Передерий Александр Александрович – лаборант-исследователь лаборатории молекулярной вирусологии.</p><p>Санкт-Петербург; тел.: 8(812)499-15-20</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">gilagalex@gmail.com</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>Комиссаров</surname><given-names>А. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Komissarov</surname><given-names>A. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Комиссаров Андрей Борисович – заведующий лабораторией молекулярной вирусологии.</p><p>Санкт-Петербург; тел.: 8(812)499-15-20</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">andrey.komissarov@influenza.spb.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>Даниленко</surname><given-names>Д. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Danilenko</surname><given-names>D. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Даниленко Дарья Михайловна – заместитель директора по научной работе, руководитель отдела этиологии и эпидемиологии, к.б.н.</p><p>Санкт-Петербург; тел.: 8(812)499-15-25</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">daria.danilenko@influenza.spb.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>Венев</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Venev</surname><given-names>E. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Венев Евгений Валентинович – старший преподаватель Научно-исследовательского института гриппа им. А.А. Смородинцева; врач-инфекционист Клинической инфекционной больницы им. С.П. Боткина; преподаватель кафедры инфекционных болезней и эпидемиологии Первого Санкт-Петербургского ГМУ им. академика И.П. Павлова.</p><p>Санкт-Петербург; тел.: 8(812)499-15-13</p></bio><bio xml:lang="en"><p>Saint-Petersburg</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>Коноплева</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Konopleva</surname><given-names>S. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Коноплёва Cофья Андреевна – студент биологического факультета.</p><p>Санкт-Петербург; тел 8(812) 363-60-00</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">s.konopleva.s@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Коржанова</surname><given-names>М.</given-names></name><name name-style="western" xml:lang="en"><surname>Korzhanova</surname><given-names>M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Коржанова Маргарита – лаборант-исследователь лаборатории молекулярной вирусологии.</p><p>Санкт-Петербург; тел.: 8(812)499-15-20</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">marory.kmm@gmail.com</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>Писарева</surname><given-names>М. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Pisareva</surname><given-names>M. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Писарева Мария Михайловна – ведущий научный сотрудник лаборатории молекулярной вирусологии, к.б.н.</p><p>Санкт-Петербург; тел.: 8(812)499-15-20</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">maria.pisareva@influenza.spb.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>Гусев</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Gusev</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гусев Денис Александрович – главный врач, д.м.н., профессор.</p><p>Санкт-Петербург; тел. 7(812) 670-78-78</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">gusevden-70@mail.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лиознов</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Lioznov</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Лиознов Дмитрий Анатольевич – директор НИИ гриппа им. А.А. Смородинцева; заведующий кафедрой инфекционных болезней и эпидемиологии Первого Санкт-Петербургского ГМУ им. академика И.П. Павлова, д.м.н., профессор.</p><p>Санкт-Петербург; тел.: 8(812)499-15-00</p></bio><bio xml:lang="en"><p>Saint-Petersburg</p></bio><email xlink:type="simple">office@influenza.spb.ru</email><xref ref-type="aff" rid="aff-5"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Научно-исследовательский институт гриппа им. А.А. Смородинцева</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Influenza named after A.A. Smorodintsev</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Научно-исследовательский институт гриппа им. А.А. Смородинцева; Клиническая инфекционная больница им. С.П. Боткина; Первый Санкт-Петербургский государственный медицинский университет им. академика И.П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Influenza named after A.A. Smorodintsev; Clinical Infectious Diseases Hospital named after S.P. Botkin; First Saint-Petersburg State Medical University named after academician I.P. Pavlov</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Санкт-Петербургский государственный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Saint-Petersburg State University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Клиническая инфекционная больница им. С.П. Боткина</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Clinical Infectious Diseases Hospital named after S.P. Botkin</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Научно-исследовательский институт гриппа им. А.А. Смородинцева; Первый Санкт-Петербургский государственный медицинский университет им. академика И.П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Influenza named after A.A. Smorodintsev; First Saint-Petersburg State Medical University named after academician I.P. Pavlov</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>16</day><month>01</month><year>2025</year></pub-date><volume>16</volume><issue>4</issue><fpage>68</fpage><lpage>77</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Передерий А.А., Комиссаров А.Б., Даниленко Д.М., Венев Е.В., Коноплева С.А., Коржанова М., Писарева М.М., Гусев Д.А., Лиознов Д.А., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Передерий А.А., Комиссаров А.Б., Даниленко Д.М., Венев Е.В., Коноплева С.А., Коржанова М., Писарева М.М., Гусев Д.А., Лиознов Д.А.</copyright-holder><copyright-holder xml:lang="en">Perederiy A.A., Komissarov A.B., Danilenko D.M., Venev E.V., Konopleva S.A., Korzhanova M., Pisareva M.M., Gusev D.A., Lioznov D.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.niidi.ru/jofin/article/view/1711">https://journal.niidi.ru/jofin/article/view/1711</self-uri><abstract><p>Целью данного контролируемого исследования было выявление полиморфизмов в геноме больных COVID­19, ассоциированных с частотой госпитализации.</p><sec><title>Материалы и методы</title><p>Материалы и методы: сформировано 2 группы пациентов: основная – 56 больных COVID­19, госпитализированных не менее двух раз за период исследования, и контрольная – 107 пациентов, для которых был подтверждена однократная госпитализация с COVID­19 за период исследования. Проведено полноэкзомное секвенирование материала из остаточных назофарингеальных мазков от госпитализированных больных COVID­19 на платформе MGI с последующим биоинформатическим анализом и применением анализа обогащения генов.</p></sec><sec><title>Результат</title><p>Результат: впервые проведено экзомное секвенирование из назофарингеальных мазков от 163 пациентов, госпитализированных с COVID­19 с использованием платформы MGI. В основной группе выявлены уникальные варианты генетических полиморфизмов, в том числе 6 ранее не описанных.</p></sec><sec><title>Заключение</title><p>Заключение: генетические варианты, статистически значимо ассоциированные со случаями однократной или неоднократной госпитализации больных COVID­19 в ходе исследования, выявлены не были. Назофарингеальные мазки могут быть использованы для проведения полноэкзомного секвенирования. Необходимы дальнейшие исследования для идентификации уникальных генетических вариантов, ответственных за восприимчивость к инфекционным заболеваниям.</p></sec></abstract><trans-abstract xml:lang="en"><p>The aim of this controlled study was to identify polymorphisms in the genome of COVID­19 patients associated with the frequency of hospitalization.</p><sec><title>Materials and methods</title><p>Materials and methods: Two groups of patients were formed: the main group – 56 patients with COVID­19, hospitalized at least twice during the study period, and the control group – 107 patients for whom only one hospitalization with COVID­19 was confirmed during the study period. Wholeexome sequencing of residual nasopharyngeal swabs from patients hospitalized with COVID­19 was performed on the MGI platform, followed by bioinformatics analysis and gene enrichment analysis.</p></sec><sec><title>Result</title><p>Result: For the first time, exome sequencing was performed from oropharyngeal swabs from 163 patients hospitalized with COVID­19 using the MGI platform. In the main group, unique variants of genetic polymorphisms were identified, including six previously undescribed ones.</p></sec><sec><title>Conclusion</title><p>Conclusion: No genetic variants were statistically significantly associated with single or multiple hospitalizations of COVID­19 patients in the study. Nasopharyngeal swabs can be used for whole exome sequencing. Further studies are needed to identify unique genetic variants responsible for susceptibility to infectious diseases. Nasopharyngeal swabs can be used for whole­exome sequencing. Further studies are needed to identify unique genetic variants responsible for susceptibility to infectious diseases.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>полноэкзомное секвенирование</kwd><kwd>редкие генетические варианты</kwd><kwd>назофарингеальные мазки</kwd><kwd>MUC5B</kwd><kwd>SERPINE1</kwd></kwd-group><kwd-group xml:lang="en"><kwd>whole exome sequencing</kwd><kwd>rare genetic variants</kwd><kwd>nasopharyngeal swabs</kwd><kwd>MUC5B</kwd><kwd>SERPINE1</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено при поддержке гранта НЦМУ «Передовые цифровые технологии» (в рамках Соглашения о предоставлении гранта от 20.04.2022 №075­15­2022­313)</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">The Human Genome Project. 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