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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">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/VJ19.464</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-1871</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>МЕДИЦИНСКАЯ ГЕНЕТИКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>MEDICAL GENETICS</subject></subj-group></article-categories><title-group><article-title>Частота распределения генотипов полиморфизма IL4 (rs 2243250) при псориазе и псориатическом артрите</article-title><trans-title-group xml:lang="en"><trans-title>The frequency of distribution of the genotypes of the IL4 polymorphism (rs 2243250) in psoriasis and psoriatic arthritis</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5349-9122</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Барило</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Barilo</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</p></bio><email xlink:type="simple">anntomsk@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/0000-0001-9984-2029</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Смольникова</surname><given-names>М. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Smolnikova</surname><given-names>M. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1197-1481</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Смирнова</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Smirnova</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Красноярск</p></bio><bio xml:lang="en"><p>Krasnoyarsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Федеральный исследовательский центр «Красноярский научный центр Сибирского отделения Российской академии наук» обособленное подразделение «Научно-исследовательский институт медицинских проблем Севера»<country>Россия</country></aff><aff xml:lang="en">Scientific Research Institute for Medical Problems in the North – Division of Federal Research Center “Krasnoyarsk Scientific Center of the Siberian Branch of the RAS”<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2019</year></pub-date><pub-date pub-type="epub"><day>26</day><month>02</month><year>2019</year></pub-date><volume>23</volume><issue>1</issue><fpage>75</fpage><lpage>80</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Барило А.А., Смольникова М.В., Смирнова С.В., 2019</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="ru">Барило А.А., Смольникова М.В., Смирнова С.В.</copyright-holder><copyright-holder xml:lang="en">Barilo A.A., Smolnikova M.V., Smirnova S.V.</copyright-holder><license 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://vavilov.elpub.ru/jour/article/view/1871">https://vavilov.elpub.ru/jour/article/view/1871</self-uri><abstract><p>Псориаз (ПС) и псориатический артрит (ПсА) – многофакторные заболевания, развитие которых определяется результатом сложного комбинированного взаимодействия генетической предрасположенности и факторов окружающей среды. Изучение генетического полиморфизма в зависимости от клинического течения ПС и ПсА позволит выявить единые диагностические критерии прогрессирования патологии. Целью работы было – проанализировать частоту распределения генотипов полиморфизма промоторного региона С-590Т (rs2243250) гена IL4 у больных псориазом и псориатическим артритом. В исследование были включены больные псориазом (n = 49) и псориатическим артритом (n = 48), которые с учетом носительства определенных генотипов разделены на группы: 1– ПС, носители генотипа С/С IL4 (rs 2243250) (n = 31), 2 – ПС, носители генотипов С/Т и Т/Т (n = 18), 3 – ПсА, носители генотипа С/С (n = 30), 4 – ПсА, носители генотипов С/Т и Т/Т (n = 18). Выделение ДНК из цельной венозной крови проводилось при помощи стандартного набора с сорбентом. Генотипирование аллельных вариантов осуществлялось методом рестрикционного анализа продуктов амплификации (ПДРФ-анализ, анализ полиморфизма длины рестрикционных фрагментов) специфических участков генома. У больных ПС, носителей генотипа С/С IL4 (rs 2243250), значение индекса PASI (Psoriasis Area and Severity Index) статистически значимо ниже относительно носителей генотипов С/Т и Т/Т. Отмечена возможная ассоциация носительства генотипов С/Т и Т/Т при ПсА с псориазом ногтей в сравнении с генотипом С/С. При изучении межгрупповых различий определено, что носительство генотипа С/С при ПсА может оказывать влияние на клиническое течение псориатического процесса с частыми обострениями и вовлечением в патологический процесс волосистой части головы с площадью поражения более 30 %. Носительство генотипов С/Т и Т/Т при ПсА может иметь ассоциацию с феноменом Кебнера и метаболическими нарушениями в сравнении с таковым при ПС. Определены различия в носительстве генотипов С/С относительно С/Т и Т/Т IL4 (rs 2243250) у больных псориазом и псориатическим артритом. С учетом крайне низкой численности групп пациентов результаты необходимо рассматривать как предварительные и требующие дальнейшей проверки, но на выборках значительно большего объема.</p></abstract><trans-abstract xml:lang="en"><p>Psoriasis (PS) and psoriatic arthritis (PsA) are multifactorial diseases determined by the result of complex combined interaction of genetic and environmental factors. The study of genetic polymorphism of PS and PsA will allow identification of common diagnostic criteria for the progression of pathology. The aim was to analyze the frequency of distribution of genotypes of the promoter region of the C-590T (rs2243250) gene IL4 in patients with psoriasis and psoriatic. The study included patients with psoriasis (n = 49) and psoriatic arthritis (n = 48), which, taking into account the carriage of certain genotypes, are divided into groups: 1, PS, carriers of the C/С genotype (n = 31); 2, PS, carriers of the C/T and T/T genotype (n = 18); 3, PsA, carriers of the C/С genotype (n = 30); and 4, PsA, carriers of the C/T and T/T genotype (n = 18). DNA extraction from whole venous blood was performed using a standard kit with a sorbent. Genotyping allelic variants was carried out by the method of restriction analysis of amplification products (RFLP-analysis) of specific regions of the genome. In PS carriers of the C/С IL4 (rs2243250), the value of the PASI index is statistically significantly lower relative to the carriers of the C/T and T/T genotypes. A possible association of the carriage of the C/T and T/T genotypes in PsA with nail psoriasis was noted in comparison with the C/C genotype. When studying intergroup differences, it was determined that the carriage of the C/C genotype in PsA can influence the clinical course of the psoriatic process with frequent exacerbations and involvement of more than 30 % of the hairy part in the pathological process. The carriage of the C/T and T/T genotypes in PsA may be associated with the Koebner phenomenon and the metabolic disorders in comparison with PS. Differences in the carriage of the C/C genotypes relative to C/T and T/T IL4 (rs2243250) in psoriasis and psoriatic arthritis were determined. Given the extremely low number of patient groups, the results should be considered as preliminary and require further testing on much larger samples.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>псориаз</kwd><kwd>псориатический артрит</kwd><kwd>полиморфизм генов</kwd><kwd>цитокины</kwd><kwd>IL4</kwd></kwd-group><kwd-group xml:lang="en"><kwd>psoriasis</kwd><kwd>psoriatic arthritis</kwd><kwd>genes polymorphism</kwd><kwd>cytokines</kwd><kwd>IL4</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">Смольникова М.В., Смирнова С.В. Генетические факторы в иммунопатогенезе псориаза и псориатического артрита. Мед. иммунология. 2014;16(3):211-220.</mixed-citation><mixed-citation xml:lang="en">Smolnikova M.V., Smirnova S.V. Genetic factors in the immunopathogenesis of psoriasis and psoriatic arthritis. Meditsinskaya Immunologiya = Medical Immunology. 2014;16(3):211-220. 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