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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">uzspbgmu</journal-id><journal-title-group><journal-title xml:lang="ru">Учёные записки Первого Санкт-Петербургского государственного медицинского университета имени академика И. П. Павлова</journal-title><trans-title-group xml:lang="en"><trans-title>The Scientific Notes of the Pavlov University</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1607-4181</issn><issn pub-type="epub">2541-8807</issn><publisher><publisher-name>Academician I.P. Pavlov First St. Petersburg State Medical University</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.24884/1607-4181-2026-33-2-40-48</article-id><article-id custom-type="elpub" pub-id-type="custom">uzspbgmu-1261</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 РАБОТЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL PAPERS</subject></subj-group></article-categories><title-group><article-title>Ассоциации однонуклеотидного варианта rs2228145 гена IL6R с особенностями клинического течения гипертрофической кардиомиопатии</article-title><trans-title-group xml:lang="en"><trans-title>Associations of the single nucleotide polymorphism rs2228145 of the IL6R gene with features of the clinical course of hypertrophic cardiomyopathy</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3167-6340</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бежанишвили</surname><given-names>Т. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Bezhanishvili</surname><given-names>T. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бежанишвили Тинатин Гелаевна, аспирант и ассистент кафедры факультетской терапии с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга, младший научный сотрудник лаборатории кардиомиопатий НИИ сердечно-сосудистых заболеваний НКИЦ</p><p>197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 </p></bio><bio xml:lang="en"><p>Bezhanishvili Tinatin G., Postgraduate Student and Assistant of the Department of Faculty Therapy with the course of Endocrinology, Cardiology with the Clinic named after Academician G. F. Lang, Junior Research Fellow at the Laboratory of Cardiomyopathies, Research Institute of Cardiovascular Diseases, National Clinical Research Center</p><p>6-8, L’va Tolstogo str., Saint Petersburg,  197022 </p></bio><email xlink:type="simple">tinatin93@rambler.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/0000-0001-8447-6919</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Семернин</surname><given-names>Е. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Semernin</surname><given-names>E. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Семернин Евгений Николаевич, кандидат медицинских наук, зав. НИО инфильтративных заболеваний сердца Института молекулярной биологии и генетики</p><p>197341, Россия, Санкт-Петербург, ул. Аккуратова, д. 2 </p></bio><bio xml:lang="en"><p>Semernin Eugeniy N., Cand. of Sci. (Med.), Head of the Research Department of Infiltrative Heart Diseases, Institute of Molecular Biology and Genetics</p><p>2, Akkuratova str., Saint Petersburg, 197341 </p></bio><email xlink:type="simple">e.semernin@yandex.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/0000-0002-0233-5555</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ильина</surname><given-names>В. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Ilyina</surname><given-names>V. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ильина Виктория Германовна, врач-кардиолог </p><p>197706, Санкт-Петербург, г. Сестрорецк, ул. Борисова, д. 9, литера Б </p></bio><bio xml:lang="en"><p>Ilyina Victoria G., Cardiologist </p><p>9, Borisova str., Sestroretsk, Saint Petersburg, 197706 </p></bio><email xlink:type="simple">victoria_lp@mail.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/0000-0001-7306-9525</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Андреева</surname><given-names>С. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Andreeva</surname><given-names>S. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Андреева София Евгеньевна, врач-кардиолог, аспирант кафедры кардиологии, лаборант-исследователь НЦМУ «Центр персонализированной медицины»</p><p>197341, Санкт-Петербург, ул. Аккуратова, д. 2 </p></bio><bio xml:lang="en"><p>Andreeva Sofia E., Cardiologist, Postgraduate Student of the Department of Cardiology, Laboratory Researcher at WCRC «Center for Personalized Medicine»</p><p>2, Akkuratova str., Saint Petersburg, 197341 </p></bio><email xlink:type="simple">andreeva.sofi2012@yandex.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/0000-0002-2766-8946</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Стрельцова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Streltsova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Стрельцова Анна Алексеевна, ассистент кафедры факультетской терапии с клиникой лечебного факультета ИМО, врач ультразвуковой диагностики высшей категории ОФД с УЗМи</p><p>197341, Санкт-Петербург, ул. Аккуратова, д. 2 </p></bio><bio xml:lang="en"><p>Streltsova Anna A., Assistant, Department of Faculty Therapy with the Clinic, Faculty of Medicine of the Institute of Medical Education, Ultrasound Diagnostics Doctor of the Highest Category, Department of Functional Diagnostics with Ultrasound and Medical-Technological Studies</p><p>2, Akkuratova str., Saint Petersburg, 197341 </p></bio><email xlink:type="simple">anikas1985@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6655-5274</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Полякова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Poliakova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Полякова Анжелика Александровна, кандидат медицинских наук, доцент кафедры терапии факультетской с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга, старший научный сотрудник лаборатории кардиомиопатий НИИ сердечно-сосудистых заболеваний НКИЦ</p><p>197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 </p></bio><bio xml:lang="en"><p>Poliakova Anzhelika A., Cand. of Sci. (Med.), Associate Professor of the Department of Faculty Therapy with the course of Endocrinology, Cardiology with the Clinic named after Academician G. F. Lang, Senior Research Fellow at the Laboratory of Cardiomyopathies, Research Institute of Cardiovascular Diseases</p><p>6-8, L’va Tolstogo str., Saint Petersburg,  197022 </p></bio><email xlink:type="simple">lica.polyakova@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/0000-0002-9349-6257</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Костарева</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kostareva</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Костарева Анна Александровна, доктор медицинских наук, профессор кафедры факультетской терапии с клиникой лечебного факультета ИМО, директор Института молекулярной биологии и генетики</p><p>197341, Санкт-Петербург, ул. Аккуратова, д. 2 </p></bio><bio xml:lang="en"><p>Kostareva Anna A., Dr. of Sci. (Med.), Professor of the Department of Faculty Therapy with the Clinic, Faculty of Medicine of the Institute of Medical Education, Director of the Institute of Molecular Biology and Genetics</p><p>2, Akkuratova str., Saint Petersburg, 197341 </p></bio><email xlink:type="simple">akostareva@hotmail.com</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0156-8821</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гудкова</surname><given-names>А. Я.</given-names></name><name name-style="western" xml:lang="en"><surname>Gudkova</surname><given-names>A. Ya.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гудкова Александра Яковлевна, доктор медицинских наук, профессор кафедры факультетской терапии с курсом эндокринологии, кардиологии с клиникой им. акад. Г. Ф. Ланга, зав. лабораторией кардиомиопатий НИИ сердечно-сосудистых заболеваний НКИЦ; ведущий научный сотрудник, Института молекулярной биологии и генетики</p><p>197022, Санкт-Петербург, ул. Льва Толстого, д. 6-8 </p><p>197341, Санкт-Петербург, ул. Аккуратова, д. 2 </p></bio><bio xml:lang="en"><p>Gudkova Alexandra Ya., Dr. of Sci. (Med.), Professor of the Department of Faculty Therapy with the course of Endocrinology, Cardiology with the Clinic named after Academician G. F. Lang, Head of the Laboratory of Cardiomyopathies, Research Institute of Cardiovascular Diseases; Leading Research Fellow, Institute of Molecular Biology and Genetics</p><p>6-8, L’va Tolstogo str., Saint Petersburg,  197022 </p><p>2, Akkuratova str., Saint Petersburg, 197341 </p></bio><email xlink:type="simple">alexagood-1954@mail.ru</email><xref ref-type="aff" rid="aff-5"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Первый Санкт-Петербургский государственный медицинский университет имени академика И. П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Pavlov University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр имени В.А. Алмазова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Almazov National Medical Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Городская больница № 40</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Saint Petersburg City Hospital № 40</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр имени В. А. Алмазова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Almazov National Medical Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Первый Санкт-Петербургский государственный медицинский университет имени академика И. П. Павлова; Национальный медицинский исследовательский центр имени В.А. Алмазова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Pavlov University ; Almazov National Medical Research Centre</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2026</year></pub-date><pub-date pub-type="epub"><day>09</day><month>10</month><year>2026</year></pub-date><volume>33</volume><issue>2</issue><fpage>40</fpage><lpage>48</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Бежанишвили Т.Г., Семернин Е.Н., Ильина В.Г., Андреева С.Е., Стрельцова А.А., Полякова А.А., Костарева А.А., Гудкова А.Я., 2026</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="ru">Бежанишвили Т.Г., Семернин Е.Н., Ильина В.Г., Андреева С.Е., Стрельцова А.А., Полякова А.А., Костарева А.А., Гудкова А.Я.</copyright-holder><copyright-holder xml:lang="en">Bezhanishvili T.G., Semernin E.N., Ilyina V.G., Andreeva S.E., Streltsova A.A., Poliakova A.A., Kostareva A.A., Gudkova A.Y.</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.sci-notes.ru/jour/article/view/1261">https://www.sci-notes.ru/jour/article/view/1261</self-uri><abstract><sec><title>Введение</title><p>Введение. Исследование модифицируемых факторов кардиометаболического риска (фКМР), влияющих на клинический фенотип гипертрофической кардиомиопатии (ГКМП), на сегодняшний день является актуальным. Известно, что гены-модификаторы способны влиять на течение и прогрессирование симптоматики при ГКМП. В то же время анализ ассоциаций однонуклеотидного варианта гена рецептора интерлейкина-6 (IL6R) с особенностями клинического течения ГКМП остается малоизученной областью.</p><p>Цель – исследовать ассоциации ОНВ rs2228145 гена IL6R с ГКМП, с наличием сопутствующей гипертонической болезни (ГБ) при ГКМП, возрастом постановки диагноза и концентрациями С-реактивного белка (СРБ) и интерлейкина-6 (ИЛ-6) в сыворотке крови.</p></sec><sec><title>Методы и материалы</title><p>Методы и материалы. Анализ ОНВ rs2228145 гена IL6R проводился у 218 пациентов с ГКМП старше 18 лет (53 [35,3; 64] года) и у 200 человек из группы сравнения (общая популяция).</p></sec><sec><title>Результаты</title><p>Результаты. Обнаружено, что генотип СС в группе пациентов с ГКМП встречался чаще, чем в общей популяции (р=0,005). Носительство СС генотипа rs2228145 ассоциируется с увеличением риска ГКМП в 3,64 раза (ОШ=3,64; 95 % ДИ: 1,44–9,15, р=0,005). Генотип СС rs2228145 гена IL6R чаще встречался у пациентов с ГКМП в сочетании с ГБ (n=134), чем у пациентов с ГКМП без ГБ (14,9 % против 2,4 %, p=0,003) и был ассоциирован с увеличением риска ГБ у пациентов с ГКМП в 7,29 раза (ОШ=7,29; 95 % ДИ (1,62–32,85), р=0,003) по сравнению с генотипом АА. Аллель С чаще встречался в группе ГКМП в сочетании с ГБ по сравнению с группой ГКМП без ГБ (35,4 % против 25,6 %, p=0,03) и ассоциировался с увеличением риска ГБ у пациентов с ГКМП в 1,6 раза (ОШ=1,6; 95 % ДИ (1,04–2,45), р=0,03). У пациентов с ГКМП в сочетании с ГБ старше 45 лет (n=119) носителей генотипа СС возраст появления критериев заболевания и постановки диагноза был младше, чем у носителей генотипов АА и АС (59 [54,5;62] лет против 63 [57,3;69,8] лет, p=0,03). Концентрации СРБ и ИЛ-6 были выше у пациентов с ГКМП в возрасте 45 лет и старше в сочетании с избыточной массой тела (ИзбМТ) или ожирением (ОЖ), чем у пациентов с ГКМП того же возраста и с нормальной массой тела (2,9 [1,28; 4,23] мг/л против 1,4 [0,3; 2,42] мг/л (р=0,04) и 1,42 [0,89; 3,37] пг/мл против 0,19 [0,11; 0,74] пг/мл (р=0,004) соответственно).</p></sec><sec><title>Заключение</title><p>Заключение. Носительство СС генотипа варианта rs2228145 гена IL6R увеличивает риск ГКМП в 3,64 раза. Носительство генотипа СС ОНВ rs2228145 гена IL6R ассоциировано с увеличением риска ГБ у пациентов с ГКМП в 7,29 раз, а носительство аллеля С – с увеличением риска ГБ у пациентов с ГКМП в 1,6 раза. У пациентов с ГКМП старше 45 лет при наличии сопутствующей ГБ и носительстве генотипа СС, диагноз устанавливался на 4 года раньше, чем у носителей генотипов АА и АС. У пациентов с ГКМП в возрасте 45 лет и старше в сочетании с ИзбМТ или ОЖ концентрация СРБ и ИЛ-6 в сыворотке крови выше, чем у лиц с нормальной массой тела того же возраста.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Introduction</title><p>Introduction. The study of modifiable cardiometabolic risk factors (CMRFs) influencing the clinical phenotype of hypertrophic cardiomyopathy (HCM) is currently relevant. It is known that modifier genes can affect the course and progression of symptoms in HCM. At the same time, the analysis of associations between single nucleotide variants of the interleukin-6 receptor gene (IL6R) and the specifics of the clinical course of HCM remains a poorly studied area.</p><p>The objective was to investigate the associations of the SNP rs2228145 of the IL6R gene with HCM, the presence of arterial hypertension (AH) in patients with HCM, age at diagnosis and serum concentrations of C-reactive protein (CRP) and interleukin-6 (IL-6).</p></sec><sec><title>Methods and materials</title><p>Methods and materials. The analysis of the SNP rs2228145 of the IL6R gene was conducted in 218 adult patients with HCM aged &gt;18 years (median 53 [35.3; 64] years) and in 200 individuals from a comparison group (general population).</p></sec><sec><title>Results</title><p>Results. It was found that the CC genotype was more common in the group of patients with HCM than in the general population (p=0.005). Carriage of the CC genotype of rs2228145 was associated with a 3.64-fold increased risk of HCM (OR=3.64; 95 % CI: 1.44–9.15; p=0.005). The CC genotype of rs2228145 of the IL6R gene was more prevalent among HCM patients with concomitant AH (n=134) compared to HCM patients without AH (14.9 % vs. 2.4 %, p=0.003) and was associated with a 7.29-fold increased risk of AH in HCM patients (OR=7.29; 95 % CI: 1.62–32.85; p=0.003) relative to the AA genotype. The C allele predominated in the HCM+AH group compared to the HCM without AH group (35.4 % vs. 25.6 %, p=0.03) and was associated with a 1.6-fold increased risk of AH in HCM patients (OR=1.6; 95 % CI: 1.04–2.45; p=0.03). Among HCM patients with concomitant AH aged ≥45 years (n=119), the age at diagnosis in CC genotype carriers was lower than in carriers of the AA and AC genotypes (59 [54.5; 62] years vs. 63 [57.3; 69.8] years, p=0.03). Serum CRP and IL-6 concentrations were higher in HCM patients aged ≥45 years with overweight or obesity than in HCM patients of the same age group with normal body weight: CRP – 2.9 [1.28; 4.23] mg/L vs. 1.4 [0.3; 2.42] mg/L (p=0.04); IL-6 – 1.42 [0.89; 3.37] pg/mL vs. 0.19 [0.11; 0.74] pg/mL (p=0.004), respectively.</p></sec><sec><title>Conclusion</title><p>Conclusion. Carriage of the CC genotype of the rs2228145 variant of the IL6R gene increases the risk of HCM by 3.64-fold. Carriage of the CC genotype of rs2228145 is associated with a 7.29-fold increased risk of AH in HCM patients, while carriage of the C allele is associated with a 1.6-fold increased risk of AH in these patients. In HCM patients with concomitant AH aged over 45 years, carriage of the CC genotype was associated with a 4-year earlier diagnosis compared to carriers of the AA and AC genotypes. In HCM patients aged ≥45 years with overweight or obesity, serum CRP and IL-6 concentrations are higher than in normal-weight individuals of the same age.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>гипертрофическая кардиомиопатия</kwd><kwd>факторы кардиометаболического риска</kwd><kwd>ген рецептора интерлейкина-6</kwd><kwd>маркеры воспаления</kwd></kwd-group><kwd-group xml:lang="en"><kwd>hypertrophic cardiomyopathy</kwd><kwd>cardiometabolic risk factors</kwd><kwd>interleukin-6 receptor gene</kwd><kwd>inflammatory markers</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">Ommen S. R., Ho C. Y., Asif I. 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