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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">russjcardiol</journal-id><journal-title-group><journal-title xml:lang="ru">Российский кардиологический журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Russian Journal of Cardiology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1560-4071</issn><issn pub-type="epub">2618-7620</issn><publisher><publisher-name>«SILICEA-POLIGRAF» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.15829/1560-4071-2025-6445</article-id><article-id custom-type="edn" pub-id-type="custom">EMXVMS</article-id><article-id custom-type="elpub" pub-id-type="custom">russjcardiol-6445</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>ГЕНЕТИКА В КАРДИОЛОГИИ. ОРИГИНАЛЬНЫЕ СТАТЬИ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>GENETICS IN CARDIOLOGY. ORIGINAL ARTICLES</subject></subj-group></article-categories><title-group><article-title>Ассоциации rs1333049 ANRIL и rs10455872 гена LPА и клинических маркеров поражения сосудов у больных с наследственными дислипидемиями до 44 лет</article-title><trans-title-group xml:lang="en"><trans-title>Associations of ANRIL rs1333049 and LPA rs10455872 with clinical markers of vascular damage in patients with hereditary dyslipidemias under 44 years of age</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6447-0146</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Емельянчик</surname><given-names>В. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Emelyanchik</surname><given-names>V. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Емельянчик Василий Сергеевич — аспирант 1-го года по направлению "Кардиология"</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">vasogrow495@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/0009-0005-4002-6322</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Моисеева</surname><given-names>А. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Moiseeva</surname><given-names>A. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Моисеева Анастасия Марковна — аспирант 1-го года по направлению "Педиатрия"</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022,</p><p>ул. Академика Киренского, д.2А, Красноярск, 660074</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022,</p><p>Akademika Kirenskogo str., 2A, Krasnoyarsk, 660074</p></bio><email xlink:type="simple">anastasiyamarkovnamoiseeva.97@mail.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/0000-0003-4639-6365</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дмитренко</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Dmitrenko</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Дмитренко Диана Викторовна — д.м.н., доцент, зав. кафедрой медицинской генетики и клинической нейрофизиологии ИПО, зав. лабораторией медицинской генетики, зав. неврологическим центром эпилептологии, нейрогенетики и исследования мозга</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">mart2802@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/0000-0001-5013-2480</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Емельянчик</surname><given-names>Е. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Emelyanchik</surname><given-names>E. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Емельянчик Елена Юрьевна — д.м.н., профессор кафедры педиатрии ИПО, врач-кардиолог</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">lenacor@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/0000-0002-4555-7457</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тимечко</surname><given-names>Е. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Timechko</surname><given-names>E. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Тимечко Елена Евгеньевна — м.н.с. лаборатории медицинской генетики</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">e.e.timechko@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/0009-0008-3369-1537</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Васильева</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasilyeva</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Васильева Анастасия Александровна — м.н.с. лаборатории медицинской генетики</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">drroptimusprime@gmail.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>Качанова</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kachanova</surname><given-names>T. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Качанова Татьяна Викторовна — врач функциональной диагностики</p><p>ул. Академика Киренского, д.2А, Красноярск, 660074</p></bio><bio xml:lang="en"><p>Akademika Kirenskogo str., 2A, Krasnoyarsk, 660074</p></bio><email xlink:type="simple">tany-fokina@yandex.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>Статникова</surname><given-names>Н. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Statnikova</surname><given-names>N. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Статникова Надежда Михайловна — врач функциональной диагностики</p><p>ул. Академика Киренского, д.2А, Красноярск, 660074</p></bio><bio xml:lang="en"><p>Akademika Kirenskogo str., 2A, Krasnoyarsk, 660074</p></bio><email xlink:type="simple">n.stat@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>Еремина</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Eremina</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Еремина Оксана Васильевна — к.м.н., доцент кафедры кардиологии, функциональной и клинико-лабораторной диагностики ИПО, врач функциональной диагностики</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022,</p><p>ул. Партизана Железняка, д.3а, Красноярск, 660022</p><p> </p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022,</p><p>Partizan Zheleznyak St., 3a, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">eryomina@mail.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/0000-0002-6968-7627</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Никулина</surname><given-names>С. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Nikulina</surname><given-names>S. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Никулина Светлана Юрьевна — д.м.н., профессор, зав. кафедрой факультетской терапии</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">nicoulina@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/0000-0001-5387-6944</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Протопопов</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Protopopov</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Протопопов Алексей Владимирович — д.м.н., профессор, ректор, зав. кафедрой лучевой диагностики ИПО, врач отделения рентгенохирургических методов диагностики и лечения</p><p>ул. Партизана Железняка, д.1, Красноярск, 660022</p></bio><bio xml:lang="en"><p>Partizan Zheleznyak St., 1, Krasnoyarsk, 660022</p></bio><email xlink:type="simple">rector@krasgmu.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Voyno-Yasenetsky Krasnoyarsk State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого Минздрава России;&#13;
КГБУЗ Красноярский краевой клинический центр охраны материнства и детства</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Voyno-Yasenetsky Krasnoyarsk State Medical University;&#13;
Krasnoyarsk Regional Clinical Center for Maternal and Child Health</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>КГБУЗ Красноярский краевой клинический центр охраны материнства и детства</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Krasnoyarsk Regional Clinical Center for Maternal and Child Health</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГБОУ ВО Красноярский государственный медицинский университет им. проф. В. Ф. Войно-Ясенецкого Минздрава России;&#13;
КГБУЗ Краевая клиническая больница</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Voyno-Yasenetsky Krasnoyarsk State Medical University;&#13;
Krasnoyarsk Regional Clinical Hospital</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>21</day><month>11</month><year>2025</year></pub-date><volume>30</volume><issue>10</issue><fpage>6445</fpage><lpage>6445</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Емельянчик В.С., Моисеева А.М., Дмитренко Д.В., Емельянчик Е.Ю., Тимечко Е.Е., Васильева А.А., Качанова Т.В., Статникова Н.М., Еремина О.В., Никулина С.Ю., Протопопов А.В., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Емельянчик В.С., Моисеева А.М., Дмитренко Д.В., Емельянчик Е.Ю., Тимечко Е.Е., Васильева А.А., Качанова Т.В., Статникова Н.М., Еремина О.В., Никулина С.Ю., Протопопов А.В.</copyright-holder><copyright-holder xml:lang="en">Emelyanchik V.S., Moiseeva A.M., Dmitrenko D.V., Emelyanchik E.Y., Timechko E.E., Vasilyeva A.A., Kachanova T.V., Statnikova N.M., Eremina O.V., Nikulina S.Y., Protopopov A.V.</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://russjcardiol.elpub.ru/jour/article/view/6445">https://russjcardiol.elpub.ru/jour/article/view/6445</self-uri><abstract><sec><title>Цель</title><p>Цель. Изучить влияние полиморфизмов rs1333049 гена ANRIL и rs10455872 гена липопротеина(а) (LPA) на клинический статус пациентов с гетерозиготной семейной гиперхолестеринемией (СГХ) и гиперлипопротеинемией(а) (гиперЛП(а)).</p></sec><sec><title>Материал и методы</title><p>Материал и методы. Обследован 171 пациент от 3 до 44 лет. Определены липидный профиль, аполипопротеин В (апоВ), липопротеин(а) (ЛП(а)) иммунохемилюминесцентным методом с помощью автоматизированной модульной платформы Roche Cobas 8000. Носительство однонуклеотидных вариантов (ОНВ) определялось методом полимеразной цепной реакции на аппарате Rotor-Gene 6000 технологией аллельной дискриминации TaqMan и флюоресцентных зондов Applied Biosystems для rs10455872 (A/G) гена LPА, rs1333049 (C/G) ANRIL. Распределение частот генотипов соответствует равновесию Харди-Вайнберга. Ультразвуковое исследование брахиоцефальных сосудов оценивалось с учётом возрастных нормативов.</p></sec><sec><title>Результаты</title><p>Результаты. Изучение взаимосвязи ОНВ rs1333049 гена ANRIL и rs10455872 LPА у пациентов с СГХ и гиперЛП(а) установило, что генотип СG rs1333049 гена ANRIL имеет прямую корреляцию с уровнем апоВ, толщиной комплекса интима-медиа (ТКИМ) в обеих целевых группах. Выявлено влияние AG генотипа rs10455872 LPА на уровень апоВ, ЛП(а) и ТКИМ у больных с СГХ и гиперЛП(а). Средний возраст развития коронарных событий составил 35 лет, в группе с СГХ число случаев инфаркта миокарда было в 2,5 раза больше, чем в группе ЛП(а).</p></sec><sec><title>Заключение</title><p>Заключение. У пациентов с СГХ и гиперЛП(а) преобладание генотипа CG ANRIL связано с высокими апоВ, ТКИМ и частотой коронарных событий. Генотип AG rs10455872 LPА связан с высоким уровнем ЛП(а), увеличением ТКИМ и риском раннего инфаркта миокарда.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Aim</title><p>Aim. To study the impact of ANRIL rs1333049 and LPA rs10455872 polymorphisms on the clinical status of patients with heterozygous familial hypercholesterolemia (FH) and hyperlipoproteinemia(a) (hyperLP(a)).</p></sec><sec><title>Material and methods</title><p>Material and methods. A total of 171 patients aged 3 to 44 years were examined. Lipid profile, apolipoprotein B (apoB), and lipoprotein(a) (LP(a)) were determined using chemiluminescence immunoassay on the Roche Cobas 8000 automated modular analyzer. Single-nucleotide variant (SNV) carriage was determined using polymerase chain reaction (PCR) on a Rotor-Gene 6000 system with TaqMan allelic discrimination technology and Applied Biosystems fluorescent probes for LPA rs10455872 (A/G) and ANRIL rs1333049 (C/G). Genotype frequency distributions corresponded to Hardy-Weinberg equilibrium. Extracranial vessel ultrasound was assessed taking into account age-specific references.</p></sec><sec><title>Results</title><p>Results. A study of relationship between the ANRIL rs1333049 and LPA rs10455872 in patients with FH and hyperLA revealed that the CG genotype of ANRIL rs1333049 directly correlates with apoB levels and intima-media thickness (IMT) in both target groups. An influence of the AG genotype of LPA rs10455872 on apoB, LP(a), and IMT levels was revealed in patients with FH and hyperLA(a). The mean age at onset of coronary events was 35 years. The incidence of myocardial infarction was 2,5 times higher in the FH group than in the LP(a) group.</p></sec><sec><title>Conclusion</title><p>Conclusion. In patients with FH and hyperLA(a), a predominance of the ANRIL CG genotype is associated with high apoB, IMT, and the incidence of coronary events. The AG genotype of LPA rs10455872 is associated with high LP(a) levels, increased IMT, and the risk of early myocardial infarction.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>липопротеин(а)</kwd><kwd>аполипопротеин В</kwd><kwd>rs1333049 ANRIL</kwd><kwd>rs10455872 LPА</kwd><kwd>ишемическая болезнь сердца</kwd><kwd>гиперлипопротеинемия(а)</kwd><kwd>семейная гиперхолестеринемия</kwd></kwd-group><kwd-group xml:lang="en"><kwd>lipoprotein(a)</kwd><kwd>apolipoprotein B</kwd><kwd>ANRIL rs1333049</kwd><kwd>LPA rs10455872</kwd><kwd>coronary artery disease</kwd><kwd>hyperlipoproteinemia(a)</kwd><kwd>familial hypercholesterolemia</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">Кухарчук В.В., Ежов М.В., Сергиенко И.В. и др. Диагностика и коррекция нарушений липидного обмена с целью профилактики и лечения атеросклероза. Российские рекомендации, VII пересмотр. 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