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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">pulmo</journal-id><journal-title-group><journal-title xml:lang="ru">Пульмонология</journal-title><trans-title-group xml:lang="en"><trans-title>PULMONOLOGIYA</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">0869-0189</issn><issn pub-type="epub">2541-9617</issn><publisher><publisher-name>Scientific and Practical Journal “PULMONOLOGIYA” LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18093/0869-0189-2026-36-1-31-42</article-id><article-id custom-type="elpub" pub-id-type="custom">pulmo-4830</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 STUDIES</subject></subj-group></article-categories><title-group><article-title>Клинико-генетическое исследование полиморфизма rs35705950 гена MUC5B у пациентов с интерстициальными заболеваниями легких</article-title><trans-title-group xml:lang="en"><trans-title>Clinical and genetic study of the rs35705950 polymorphism  of the MUC5B gene in patients with interstitial lung diseases</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8020-3577</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сигин</surname><given-names>В. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Sigin</surname><given-names>V. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Сигин Владимир Олегович – к. б. н., заведующий лабораторией эпигенетики ожирения и диабета</p><p>115522, Москва, ул. Москворечье, 1</p><p>тел.: (495) 111-03-03</p><p>WoS Researcher ID:<ext-link xlink:href="https://publons.com/researcher/2948844/vladimir-sigin/" ext-link-type="uri"> P-6764-2019;</ext-link> РИНЦ ID:<ext-link xlink:href="https://elibrary.ru/author_profile.asp?id=974871" ext-link-type="uri"> 974871</ext-link></p></bio><bio xml:lang="en"><p>Vladimir O. Sigin, Candidate of Biology, Head of the Laboratory of Epigenetics of Obesity and Diabetes</p><p>ul. Moskvorechye 1, Moscow, 115522</p><p>tel.: (495) 111-03-03</p><p>WoS Researcher ID:<ext-link xlink:href="https://publons.com/researcher/2948844/vladimir-sigin/" ext-link-type="uri"> P-6764-2019;</ext-link> РИНЦ ID:<ext-link xlink:href="https://elibrary.ru/author_profile.asp?id=974871" ext-link-type="uri"> 974871</ext-link></p></bio><email xlink:type="simple">sigin.vladimir@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0006-5254-1185</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Савина</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Savina</surname><given-names>T. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Савина Тамара Алексеевна – аспирант; врач-эндокринолог </p><p>115682, Москва, Ореховый бульвар, 28, стр. 10</p><p>115682, Москва, Ореховый бульвар, 28</p><p>тел.: (495) 651-95-62</p></bio><bio xml:lang="en"><p>Tamara A. Savina, Postgraduate Student; Endocrinologist</p><p>Orekhovyy bul’var 28, build. 10, Moscow, 115682</p><p>Orekhovyy bul’var 28, Moscow, 115682</p><p>tel.: (495) 651-95-62</p></bio><email xlink:type="simple">savina.tamara@bk.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1131-3195</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чеканов</surname><given-names>Н. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Chekanov</surname><given-names>N. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Чеканов Николай Николаевич – старший специалист по биоинформатике</p><p>117437, Москва, ул. Миклухо-Маклая, 16 / 10, корп. 16</p><p>тел.: (495) 939-36-57</p></bio><bio xml:lang="en"><p>Nikolay N. Chekanov, Senior Bioinformatics Specialist</p><p>ul. Miklukho-Maklaya 16/10, build. 16, Moscow, 117437</p><p>tel.: (495) 939-36-57</p></bio><email xlink:type="simple">nchekanov@biotc.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5999-2150</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Авдеев</surname><given-names>С. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Avdeev</surname><given-names>S. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Авдеев Сергей Николаевич – д. м. н., профессор, академик Российской академии наук; директор Национального медицинского исследовательского центра по профилю «Пульмонология»; заведующий кафедрой пульмонологии Института клинической медицины имени Н.В.Склифосовского; руководитель клинического отдела; главный внештатный пульмонолог Министерства здравоохранения </p><p>119991, Москва, ул. Трубецкая, 8, стр. 2</p><p>115682, Москва, Ореховый бульвар, 28</p><p>тел.: (495) 708-35-76</p></bio><bio xml:lang="en"><p>Sergey N. Avdeev, Doctor of Medicine, Professor, Academician of Russian Academy of Sciences, Director of the National Medical Research Center for Pulmonology; Head of the Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine; Head of Clinical Department; Chief Pulmonologist of the Ministry of Health of the Russian Federation</p><p>ul. Trubetskaya 8, build. 2, Moscow, 119991</p><p>Orekhovyy bul’var 28, Moscow, 115682</p><p>tel.: (495) 708-35-76</p></bio><email xlink:type="simple">serg_avdeev@list.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0685-4133</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Трушенко</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Trushenko</surname><given-names>N. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Трушенко Наталья Владимировна – к. м. н., доцент кафедры пульмонологии Института клинической медицины имени Н.В.Склифосовского; научный сотрудник научно-методического центра мониторинга и контроля болезней органов дыхания  </p><p>119991, Москва, ул. Трубецкая, 8, стр. 2</p><p>115682, Москва, Ореховый бульвар, 28</p><p>тел.: (499) 450-88-89</p></bio><bio xml:lang="en"><p>Natal’ya V. Trushenko, Candidate of Medicine, Associate Professor, Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine); Researcher, Scientific and Methodological Center for Monitoring and Control of Respiratory Diseases</p><p>ul. Trubetskaya 8, build. 2, Moscow, 119991</p><p>Orekhovyy bul’var 28, Moscow, 115682</p><p>tel.: (499) 450-88-89</p></bio><email xlink:type="simple">trushenko.natalia@yandex.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9661-7213</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Суворова</surname><given-names>О. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Suvorova</surname><given-names>O. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Суворова Ольга Александровна – ассистент кафедры пульмонологии Института клинической медицины имени Н.В.Склифосовского</p><p>119991, Москва, ул. Трубецкая, 8, стр. 2</p><p>тел.: (499) 450-88-89</p></bio><bio xml:lang="en"><p>Olga A. Suvorova, Assistant, Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine</p><p>ul. Trubetskaya 8, build. 2, Moscow, 119991</p><p>tel.: (499) 450-88-89</p></bio><email xlink:type="simple">olga.a.suvorova@mail.ru</email><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1254-6863</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Лавгинова</surname><given-names>Б. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Lavginova</surname><given-names>B. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Лавгинова Баина Баатровна – аспирант кафедры пульмонологии Института клинической медицины имени Н.В.Склифосовского</p><p>119991, Москва, ул. Трубецкая, 8, стр. 2</p><p>тел.: (499) 450-88-89</p></bio><bio xml:lang="en"><p>Baina B. Lavginova, Postgraduate Student, Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine</p><p>ul. Trubetskaya 8, build. 2, Moscow, 119991</p><p>tel.: (499) 450-88-89</p></bio><email xlink:type="simple">bapus15@yandex.ru</email><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0928-2900</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Левина</surname><given-names>Ю. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Levina</surname><given-names>Yu. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Левина Юлия Алексеевна – аспирант кафедры пульмонологии Института клинической медицины имени Н.В.Склифосовского</p><p>119991, Москва, ул. Трубецкая, 8, стр. 2</p><p>тел.: (499) 450-88-89</p></bio><bio xml:lang="en"><p>Yuliia A. Levina, Postgraduate Student, Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine</p><p>ul. Trubetskaya 8, build. 2, Moscow, 119991</p><p>tel.: (499) 450-88-89</p></bio><email xlink:type="simple">yu1999levina@gmail.com</email><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0008-0270-2782</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Курылева</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kuryleva</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Курылева Олеся Вячеславовна – ординатор</p><p>115682, Россия, Москва, Ореховый бульвар, 28</p><p>тел.: (495) 145-60-52</p></bio><bio xml:lang="en"><p>Olesya V. Kuryleva, Resident</p><p>Orekhovyy bul’var 28, Moscow, 115682</p><p>tel.: (495) 145-60-52</p></bio><email xlink:type="simple">Lesia764@bk.ru</email><xref ref-type="aff" rid="aff-7"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0375-5228</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бабаджанова</surname><given-names>Г. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Babadjanova</surname><given-names>G. Ju.</given-names></name></name-alternatives><bio xml:lang="ru"><p> Бабаджанова Гульнара Юсуповна – д. м. н., ведущий научный сотрудник; профессор кафедры многопрофильной клинической подготовки факультета фундаментальной медицины  </p><p>115682, Россия, Москва, Ореховый бульвар, 28, стр. 10</p><p>119992, Россия, Москва, Ленинские горы, 1</p><p>тел.: (495) 651-95-62</p></bio><bio xml:lang="en"><p>Goulnara Ju. Babadjanova, Doctor of Medicine, Leading Researcher; Professor, Department of Multidisciplinary Clinical Training, Faculty of Fundamental Medicine</p><p>Orekhovyy bul’var 28, build. 10, Moscow, 115682</p><p>Leninskye gory 1, build. 40, Moscow, 119992</p><p>tel.: (495) 651-95-62</p></bio><email xlink:type="simple">babadjanova@rambler.ru</email><xref ref-type="aff" rid="aff-8"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П.Бочкова» Министерства  науки и высшего образования Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии» Федерального медико-биологического агентства России»; Федеральное государственное бюджетное учреждение «Федеральный научно-клинический центр специализированных видов медицинской помощи и медицинских технологий Федерального медико-биологического агентства»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation; Federal State Budgetary Institution “Federal Scientific and Clinical Center for Specialized Types of Medical Care and Medical Technologies of the Federal Medical and Biological Agency of Russia”</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Общество с ограниченной ответственностью «Биотехнологический кампус»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>“Biotechnology Campus”Limited Liability Company</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Федеральное государственное автономное образовательное учреждение высшего образования «Первый Московский государственный медицинский университет имени И.М.Сеченова» Министерства здравоохранения Российской Федерации (Сеченовский Университет); Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии» Федерального медико-биологического агентства России»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Федеральное государственное автономное образовательное учреждение высшего образования Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет); Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии» Федерального медико-биологического агентства России»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>Федеральное государственное автономное образовательное учреждение высшего образования Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-7"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное учреждение «Федеральный научно-клинический центр специализированных видов медицинской помощи и медицинских технологий Федерального медико-биологического агентства»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Budgetary Institution “Federal Scientific and Clinical Center for Specialized Types of Medical Care and Medical Technologies of the Federal Medical and Biological Agency of Russia”</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-8"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии Федерального медико-биологического агентства России»; Федеральное государственное бюджетное образовательное учреждение высшего образования «Московский государственный университет имени М.В.Ломоносова» Правительства Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation; Federal State Budget Educational Institution of Higher Education M.V.Lomonosov Moscow State University, The Government of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2026</year></pub-date><pub-date pub-type="epub"><day>18</day><month>02</month><year>2026</year></pub-date><volume>36</volume><issue>1</issue><fpage>31</fpage><lpage>42</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Сигин В.О., Савина Т.А., Чеканов Н.Н., Авдеев С.Н., Трушенко Н.В., Суворова О.А., Лавгинова Б.Б., Левина Ю.А., Курылева О.В., Бабаджанова Г.Ю., 2026</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Сигин В.О., Савина Т.А., Чеканов Н.Н., Авдеев С.Н., Трушенко Н.В., Суворова О.А., Лавгинова Б.Б., Левина Ю.А., Курылева О.В., Бабаджанова Г.Ю.</copyright-holder><copyright-holder xml:lang="en">Sigin V.O., Savina T.A., Chekanov N.N., Avdeev S.N., Trushenko N.V., Suvorova O.A., Lavginova B.B., Levina Y.A., Kuryleva O.V., Babadjanova G.J.</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.pulmonology.ru/pulm/article/view/4830">https://journal.pulmonology.ru/pulm/article/view/4830</self-uri><abstract><p>Интерстициальные заболевания легких (ИЗЛ) представляют серьезную медико-социальную проблему в связи с прогрессирующим течением и неблагоприятным прогнозом. Важную роль в их патогенезе играют генетические факторы, в частности полиморфизм гена MUC5B.</p><p>Целью исследования являлась оценка частоты аллеля риска T однонуклеотидного полиморфизма rs35705950 гена MUC5B у российских пациентов с гиперчувствительным пневмонитом (ГП) и идиопатическим легочным фиброзом (ИЛФ) по сравнению с общей популяцией.</p><sec><title>Материалы и методы</title><p>Материалы и методы. В исследование включены пациенты (n = 86) с ГП (n = 49) и ИЛФ (n = 37). Контрольную группу составила выборка проекта «Национальная генетическая инициатива 100 000 + Я» (n = 89 261). Генотипирование полиморфизма rs35705950 проводилось методом полимеразной цепной реакции с последующим анализом полиморфизма длин рестрикционных фрагментов (рестриктаза BstHHI). В статистический анализ были включены расчет частот аллелей и генотипов, оценка соответствия равновесию Харди–Вайнберга (РВХ), анализ ассоциаций на основе отношения шансов (Odds Ratio – OR) по аллельной и доминантной моделям. </p></sec><sec><title>Результаты</title><p>Результаты. Частота аллеля риска T была достоверно выше в группах пациентов по сравнению с контролем (p &lt; 0,001): 0,2973 – при ИЛФ (OR – 3,82; 95%-ный доверительный интервал (ДИ) – 2,21–6,41; p = 1,9 × 10–6) и 0,2551– при ГП (OR – 3,10; 95%-ный ДИ – 1,88–4,94; p = 8,4 × 10–6). По результатам анализа по доминантной модели (генотипы TT+GT) также выявлено значимое увеличение риска для ИЛФ (OR – 5,05; 95%-ный ДИ – 2,64–9,64) и ГП (OR – 3,22; 95%-ный ДИ – 1,83–5,67) по сравнению с контрольной группой (p &lt; 0,001). При сравнении пациентов с ИЛФ и ГП различия по частотам аллеля T не достигли статистической значимости (OR – 1,23; 95%-ный ДИ – 0,59–2,56; p = 0,61). Распределение генотипов во всех группах соответствовало РВХ.</p></sec><sec><title>Заключение</title><p>Заключение. Полиморфизм rs35705950 гена MUC5B является значимым фактором генетического риска развития как ИЛФ, так и ГП в российской популяции. Схожий профиль риска для 2 нозологий указывает на общность патогенетических механизмов, связанных с данным геном. Полученные данные обосновывают включение анализа MUC5B в обследование пациентов с подозрением на ИЗЛ.</p></sec></abstract><trans-abstract xml:lang="en"><p>Interstitial lung diseases (ILD) represent a serious medical and social problem due to their progressive course and unfavorable prognosis. Genetic factors, in particular, the MUC5B gene polymorphism, play an important role in their pathogenesis.</p><p>The aim of the study was to evaluate the frequency of the T-risk allele of the rs35705950 single nucleotide polymorphism of the MUC5B gene in Russian patients with hypersensitivity pneumonitis (HP) and idiopathic pulmonary fibrosis (IPF) compared with the general population.</p><sec><title>Methods</title><p>Methods. The study included patients (n = 86) with HP (n = 49) and IPF (n = 37). The control group consisted of a sample from the National Genetic Initiative 100,000 + I project (n = 89,261). Genotyping of the rs35705950 polymorphism was performed using polymerase chain reaction followed by restriction fragment length polymorphism analysis (BstHHI restriction enzyme). Statistical analysis included calculation of allele and genotype frequencies, assessment of compliance with Hardy – Weinberg equilibrium, and association analysis based on odds ratios (OR) for allelic and dominant models.</p></sec><sec><title>Results</title><p>Results. The frequency of the risk allele T was significantly higher in the patient groups compared to the control (p &lt; 0.001): 0.2973 in IPF (OR – 3.82; 95% CI – 2.21–6.41; p =  1.9 × 10–6) and 0.2551 in GP (OR – 3.10; 95% CI – 1.88–4.94; p = 8.4 × 10–6). The results of the dominant model analysis (TT+GT genotypes) also revealed a significant increase in the risk of IPF (OR – 5.05; 95% CI – 2.64–9.64) and GP (OR – 3.22; 95% CI – 1.83–5.67) compared with the control group (p &lt; 0.001). When comparing patients with IPF and GP, the differences in T allele frequencies did not reach statistical significance (OR – 1.23; 95% CI – 0.59–2.56; p = 0.61). The distribution of genotypes in all groups corresponded to the Hardy – Weinberg equilibrium.</p></sec><sec><title>Conclusion</title><p>Conclusion. The rs35705950 polymorphism of the MUC5B gene is a significant genetic risk factor for the development of both IPF and GP in the Russian population. The similar risk profile for these two entities suggests common pathogenetic mechanisms associated with this gene. These findings support the inclusion of MUC5B analysis in the evaluation of patients with suspected ILD.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>интерстициальные заболевания легких</kwd><kwd>гиперчувствительный пневмонит</kwd><kwd>идиопатический легочный фиброз</kwd><kwd>MUC5B</kwd><kwd>молекулярно-генетический анализ</kwd></kwd-group><kwd-group xml:lang="en"><kwd>interstitial lung diseases</kwd><kwd>hypersensitivity pneumonitis</kwd><kwd>idiopathic pulmonary fibrosis</kwd><kwd>MUC5B</kwd><kwd>molecular genetic analysis</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена в рамках государственного задания Министерства науки и высшего образования Российской Федерации для Федерального государственного бюджетного научного учреждения «Медико-генетический научный центр имени академика Н.П.Бочкова» Министерства науки и высшего образования Российской Федерации (№ 125040704897-7), в рамках инициативного научного исследования на тему «Интерстициальные заболевания легких: изучение предикторов прогрессирования и неблагоприятного прогноза у пациентов с углеводными нарушениями» Федерального государственного бюджетного учреждения «Научно-исследо ватель ский институт пульмонологии Федерального медико-биологического агентства России».</funding-statement><funding-statement xml:lang="en">This work was supported by a state assignment from the Ministry of Science and Higher Education of the Russian Federation to the Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics” (No.125040704897-7), as part of an initiative research project entitled “Interstitial Lung Diseases: Study of Predictors of Progression and Poor Prognosis in Patients with Carbohydrate Disorders”, Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation.</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">Wijsenbeek M., Suzuki A., Maher T.M. Interstitial lung diseases. Lancet. 2022; 400 (10354): 769–786. DOI: 10.1016/S0140-6736(22)01052-2.</mixed-citation><mixed-citation xml:lang="en">Wijsenbeek M., Suzuki A., Maher T.M. Interstitial lung diseases. Lancet. 2022; 400 (10354): 769–786. DOI: 10.1016/S0140-6736(22)01052-2.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Michalski J.E., Schwartz D.A. Genetic risk factors for idiopathic pulmonary fibrosis: insights into immunopathogenesis. J. Inflamm. Res. 2021; 13: 1305–1318. DOI: 10.2147/JIR.S280958.</mixed-citation><mixed-citation xml:lang="en">Michalski J.E., Schwartz D.A. Genetic risk factors for idiopathic pulmonary fibrosis: insights into immunopathogenesis. J. Inflamm. Res. 2021; 13: 1305–1318. DOI: 10.2147/JIR.S280958.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Авдеев С.Н., Чикина С.Ю., Тюрин И.Е. и др. Хронические фиброзирующие интерстициальные заболевания легких с прогрессирующим фиброзным фенотипом: резолюция Междисциплинарного Совета экспертов. Пульмонология. 2021; 31 (4): 505–510. DOI: 10.18093/0869-0189-2021-31-4-505-510.</mixed-citation><mixed-citation xml:lang="en">Avdeev S.N., Chikina S.Y., Tiurin I.E. et al. [Chronic fibrosing progressing interstitial lung disease: a decision of Multidisciplinary Expert Board.]. Pul'monologiya. 2021; 31 (4): 505–510. DOI: 10.18093/0869-0189-2021-31-4-505-510 (in Russian).</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Илькович М.М., Новикова Л.Н., Илькович Ю.М. Диссеминированные заболевания легких в практике семейного врача. Российский семейный врач. 2012; (2): 16–22. DOI: 10.17816/RFD2012216-22.</mixed-citation><mixed-citation xml:lang="en">Ilkovich M.M., Novikova L.N., Ilkovich J.M. [Disseminated lung diseases in primary care practice]. Rossiyskiy semeynyy vrach. 2012; 16 (2): 16–22. DOI: 10.17816/RFD2012216-22 (in Russian).</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Российское респираторное общество. Клинические рекомендации: Идиопатический легочный фиброз. 2021. Доступно на: https://spulmo.ru/upload/kr/ILF_2021.pdf [Дата обращения: 23.09.25].</mixed-citation><mixed-citation xml:lang="en">Russian Respiratory Society [Clinical guidelines. Idiopathic pulmonary fibrosis]. 2021. Available at: https://spulmo.ru/upload/kr/ILF_2021.pdf [Accessed: September 23, 2025] (in Russian).</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Российское респираторное общество. Клинические рекомендации: Гиперчувствительный пневмонит. 2022. Доступно на: https://spulmo.ru/upload/kr_GP_040422_2.pdf [Дата обращения: 23.09.25].</mixed-citation><mixed-citation xml:lang="en">Russian Respiratory Society. [Clinical guidelines. Hypersensitivity pneumonitis]. 2022. Available at: https://spulmo.ru/upload/kr_GP_040422_2.pdf [Accessed: September 23, 2025] (in Russian).</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Fernández Pérez E.R., Travis W.D., Lynch D.A. et al. Diagnosis and evaluation of hypersensitivity pneumonitis: CHEST guideline and expert panel report. Chest. 2021; 160 (2): e97–156. DOI: 10.1016/j.chest.2021.03.066.</mixed-citation><mixed-citation xml:lang="en">Fernández Pérez E.R., Travis W.D., Lynch D.A. et al. Diagnosis and evaluation of hypersensitivity pneumonitis: CHEST guideline and expert panel report. Chest. 2021; 160 (2): e97–156. DOI: 10.1016/j.chest.2021.03.066.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Furusawa H., Peljto A.L., Walts A.D. et al. Common idiopathic pulmonary fibrosis risk variants are associated with hypersensitivity pneumonitis. Thorax. 2022; 77 (5): 508–510. DOI: 10.1136/thoraxjnl-2021-217693.</mixed-citation><mixed-citation xml:lang="en">Furusawa H., Peljto A.L., Walts A.D. et al. Common idiopathic pulmonary fibrosis risk variants are associated with hypersensitivity pneumonitis. Thorax. 2022; 77 (5): 508–510. DOI: 10.1136/thoraxjnl-2021-217693.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Ley B., Torgerson D.G., Oldham J.M. et al. Rare protein-altering telomere-related gene variants in patients with chronic hypersensitivity pneumonitis. Am. J. Respir. Crit. Care Med. 2019; 200 (9): 1154–1163. DOI: 10.1164/rccm.201902-0360OC.</mixed-citation><mixed-citation xml:lang="en">Ley B., Torgerson D.G., Oldham J.M. et al. Rare protein-altering telomere-related gene variants in patients with chronic hypersensitivity pneumonitis. Am. J. Respir. Crit. Care Med. 2019; 200 (9): 1154–1163. DOI: 10.1164/rccm.201902-0360OC.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Hutchinson J.P., McKeever T.M., Fogarty A.V. et al. Rising global mortality from idiopathic pulmonary fibrosis in the twenty-first century. An. Am. Thorac. Soc. 2014; 11 (8): 1176–1185. DOI: 10.1513/AnnalsATS.201404-145OC.</mixed-citation><mixed-citation xml:lang="en">Hutchinson J.P., McKeever T.M., Fogarty A.V. et al. Rising global mortality from idiopathic pulmonary fibrosis in the twenty-first century. An. Am. Thorac. Soc. 2014; 11 (8): 1176–1185. DOI: 10.1513/AnnalsATS.201404-145OC.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Evans C.M., Fingerlin T.E., Schwarz M.I. et al. Idiopathic pulmonary fibrosis: a genetic disease that involves mucociliary dysfunction of the peripheral airways. Physiol. Rev. 2016; 96 (4): 1567–1591. DOI: 10.1152/physrev.00004.2016.</mixed-citation><mixed-citation xml:lang="en">Evans C.M., Fingerlin T.E., Schwarz M.I. et al. Idiopathic pulmonary fibrosis: a genetic disease that involves mucociliary dysfunction of the peripheral airways. Physiol. Rev. 2016; 96 (4): 1567–1591. DOI: 10.1152/physrev.00004.2016.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Noth I., Zhang Y., Ma S.F. et al. Genetic variants associated with susceptibility and mortality to idiopathic pulmonary fibrosis: a genome-wide association study. Lancet Respir. Med. 2013; 1 (4): 309–317. DOI: 10.1016/S2213-2600(13)70045-6.</mixed-citation><mixed-citation xml:lang="en">Noth I., Zhang Y., Ma S.F. et al. Genetic variants associated with susceptibility and mortality to idiopathic pulmonary fibrosis: a genome-wide association study. Lancet Respir. Med. 2013; 1 (4): 309–317. DOI: 10.1016/S2213-2600(13)70045-6.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Zhang Y., Noth I., Garcia J.G., Kaminsky N. A Variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. N. Engl. J. Med. 2011; 364 (16): 1576–1577. DOI: 10.1056/NEJMc1013504.</mixed-citation><mixed-citation xml:lang="en">Zhang Y., Noth I., Garcia J.G., Kaminsky N. A Variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. N. Engl. J. Med. 2011; 364 (16): 1576–1577. DOI: 10.1056/NEJMc1013504.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Seibold M.A., Wise A.L., Speer M.C. et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N. Engl. J. Med. 2011; 364 (16): 1503–1512. DOI: 10.1056/NEJMoa1013660.</mixed-citation><mixed-citation xml:lang="en">Seibold M.A., Wise A.L., Speer M.C. et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N. Engl. J. Med. 2011; 364 (16): 1503–1512. DOI: 10.1056/NEJMoa1013660.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Kasper M., Haroske G. Alterations in the alveolar epithelium after injury leading to pulmonary fibrosis. Histol. Histopathol. 1996; 11 (2): 463–483.</mixed-citation><mixed-citation xml:lang="en">Kasper M., Haroske G. Alterations in the alveolar epithelium after injury leading to pulmonary fibrosis. Histol. Histopathol. 1996; 11 (2): 463–483.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Moss B.J., Ryter S.W., Rosas I.O. Pathogenic mechanisms underlying idiopathic pulmonary fibrosis. Annu. Rev. Pathol. 2022; 17: 515–546. DOI: 10.1146/annurev-pathol-042320-030240.</mixed-citation><mixed-citation xml:lang="en">Moss B.J., Ryter S.W., Rosas I.O. Pathogenic mechanisms underlying idiopathic pulmonary fibrosis. Annu. Rev. Pathol. 2022; 17: 515–546. DOI: 10.1146/annurev-pathol-042320-030240.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Ryerson C.J., Adegunsoye A., Piciucchi S. et al. Update of the international multidisciplinary classification of the interstitial pneumonias: an ERS/ATS statement. Eur. Respir. J. 2025; 66 (6): 2500158. DOI: 10.1183/13993003.00158-2025.</mixed-citation><mixed-citation xml:lang="en">Ryerson C.J., Adegunsoye A., Piciucchi S. et al. Update of the international multidisciplinary classification of the interstitial pneumonias: an ERS/ATS statement. Eur. Respir. J. 2025; 66 (6): 2500158. DOI: 10.1183/13993003.00158-2025.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Borie R., Cardwell J., Konigsberg I.R. et al. Colocalization of gene expression and DNA methylation with genetic risk variants supports functional roles of MUC5B and DSP in idiopathic pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 2022; 206 (10): 1259–1270. DOI: 10.1164/rccm.202110-2308OC.</mixed-citation><mixed-citation xml:lang="en">Borie R., Cardwell J., Konigsberg I.R. et al. Colocalization of gene expression and DNA methylation with genetic risk variants supports functional roles of MUC5B and DSP in idiopathic pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 2022; 206 (10): 1259–1270. DOI: 10.1164/rccm.202110-2308OC.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Stock C.J., Conti C., Montero-Fernandez Á. et al. Interaction between the promoter MUC5B polymorphism and mucin expression: is there a difference according to ILD subtype? Thorax. 2020; 75 (10): 901–903. DOI: 10.1136/thoraxjnl-2020-214579.</mixed-citation><mixed-citation xml:lang="en">Stock C.J., Conti C., Montero-Fernandez Á. et al. Interaction between the promoter MUC5B polymorphism and mucin expression: is there a difference according to ILD subtype? Thorax. 2020; 75 (10): 901–903. DOI: 10.1136/thoraxjnl-2020-214579.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Mota P.C., Soares M.L., Ferreira A.C. et al. Polymorphisms and haplotypes of TOLLIP and MUC5B are associated with susceptibility and survival in patients with fibrotic hypersensitivity pneumonitis. Pulmonology. 2025; 31 (1): 2416788. DOI: 10.1016/j.pulmoe.2024.01.002.</mixed-citation><mixed-citation xml:lang="en">Mota P.C., Soares M.L., Ferreira A.C. et al. Polymorphisms and haplotypes of TOLLIP and MUC5B are associated with susceptibility and survival in patients with fibrotic hypersensitivity pneumonitis. Pulmonology. 2025; 31 (1): 2416788. DOI: 10.1016/j.pulmoe.2024.01.002.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Ley B., Newton C.A., Arnould I. et al. The MUC5B promoter polymorphism and telomere length in patients with chronic hypersensitivity pneumonitis: an observational cohort-control study. Lancet Respir. Med. 2017; 5 (8): 639–647. DOI: 10.1016/S2213-2600(17)30216-3.</mixed-citation><mixed-citation xml:lang="en">Ley B., Newton C.A., Arnould I. et al. The MUC5B promoter polymorphism and telomere length in patients with chronic hypersensitivity pneumonitis: an observational cohort-control study. Lancet Respir. Med. 2017; 5 (8): 639–647. DOI: 10.1016/S2213-2600(17)30216-3.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Lou H.Q., Huang C.X., Li G.Y. et al. The association between MUC5B Rs35705950 and risks of idiopathic interstitial pneumonia, systemic sclerosis interstitial lung disease, and familial interstitial pneumonia: a meta-analysis. Iran. J. Public Health. 2020; 49 (12): 2240–2250. DOI: 10.18502/ijph.v49i12.4801.</mixed-citation><mixed-citation xml:lang="en">Lou H.Q., Huang C.X., Li G.Y. et al. The association between MUC5B Rs35705950 and risks of idiopathic interstitial pneumonia, systemic sclerosis interstitial lung disease, and familial interstitial pneumonia: a meta-analysis. Iran. J. Public Health. 2020; 49 (12): 2240–2250. DOI: 10.18502/ijph.v49i12.4801.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Furusawa H., Peljto A.L., Walts A.D. et al. Common idiopathic pulmonary fibrosis risk variants are associated with hypersensitivity pneumonitis. Thorax. 2022; 77 (5): 508–510. DOI: 10.1136/thoraxjnl-2021-217693.</mixed-citation><mixed-citation xml:lang="en">Furusawa H., Peljto A.L., Walts A.D. et al. Common idiopathic pulmonary fibrosis risk variants are associated with hypersensitivity pneumonitis. Thorax. 2022; 77 (5): 508–510. DOI: 10.1136/thoraxjnl-2021-217693.</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>
