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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">cfpd</journal-id><journal-title-group><journal-title xml:lang="ru">Бюллетень физиологии и патологии дыхания</journal-title><trans-title-group xml:lang="en"><trans-title>Bulletin Physiology and Pathology of Respiration</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1998-5029</issn><publisher><publisher-name>Дальневосточный научный центр физиологии и патологии дыхания</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.36604/1998-5029-2021-80-51-56</article-id><article-id custom-type="elpub" pub-id-type="custom">cfpd-879</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 RESEARCH</subject></subj-group></article-categories><title-group><article-title>Клиническое значение полиморфизма гена рецептора витамина Д при бронхиальной астме у детей</article-title><trans-title-group xml:lang="en"><trans-title>Clinical significance of vitamin d receptor gene polymorphism in children with bronchial asthma</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9670-9211</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Потапова</surname><given-names>Н. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Potapova</surname><given-names>N. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>канд. мед. наук, зав. кафедрой поликлинической педиатрии, </p><p>672090, г. Чита, ул. Горького, 39а</p></bio><bio xml:lang="en"><p>39a Gorkiy Street, Chita, 672090</p></bio><email xlink:type="simple">nataliapotap@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/0000-0002-1796-2711</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Марковская</surname><given-names>А. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Markovskaya</surname><given-names>A. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>ассистент кафедры педиатрии, </p><p>672090, г. Чита, ул. Горького, 39а</p></bio><bio xml:lang="en"><p>39a Gorkiy Street, Chita, 672090</p></bio><email xlink:type="simple">anzhelika_petrova_1992@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/0000-0002-8771-5230</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гаймоленко</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Gaymolenko</surname><given-names>I. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>д-р мед. наук, профессор, зав. кафедрой педиатрии, </p><p>672090, г. Чита, ул. Горького, 39а</p></bio><bio xml:lang="en"><p>39a Gorkiy Street, Chita, 672090</p></bio><email xlink:type="simple">ingaim@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное образовательное учреждение высшего образования&#13;
«Читинская государственная медицинская академия» Министерства здравоохранения Российской Федерации</institution></aff><aff xml:lang="en"><institution>Chita state medical academy</institution></aff></aff-alternatives><pub-date pub-type="collection"><year>2021</year></pub-date><pub-date pub-type="epub"><day>15</day><month>07</month><year>2021</year></pub-date><volume>0</volume><issue>80</issue><fpage>51</fpage><lpage>56</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Потапова Н.Л., Марковская А.И., Гаймоленко И.Н., 2021</copyright-statement><copyright-year>2021</copyright-year><copyright-holder xml:lang="ru">Потапова Н.Л., Марковская А.И., Гаймоленко И.Н.</copyright-holder><copyright-holder xml:lang="en">Potapova N.L., Markovskaya A.I., Gaymolenko I.N.</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://cfpd.elpub.ru/jour/article/view/879">https://cfpd.elpub.ru/jour/article/view/879</self-uri><abstract><sec><title>Введение</title><p>Введение. Развитие хронического аллергического воспаления дыхательных путей детерминировано различными генами. Предполагается, что клинические особенности течения бронхиальной астмы могут быть ассоциированы с синглетным полиморфизмом рецептора витамина Д.</p></sec><sec><title>Цель</title><p>Цель. Проанализировать частоту встречаемости полиморфных вариантов гена VDR-63980G&gt;A и оценить их ассоциацию с особенностями развития и течения бронхиальной астмы у детей.</p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. Для исследования ассоциации полиморфизма гена VDR63980G&gt;A с бронхиальной астмой у детей было отобрано 154 больных бронхиальной астмой в возрасте от 1 до 18 лет и 116 здоровых лиц. Проведена оценка объективного статуса пациентов с уточнением анамнеза, стандартным лабораторным и инструментальным обследованием. Методом полимеразной цепной реакции типировали одиночные нуклеотидные замены с детекцией результатов в режиме реального времени. Оценку распределения генотипов проводили при помощи программы «Ген-эксперт».</p></sec><sec><title>Результаты</title><p>Результаты. В результате проведенного ассоциативного анализа установлена взаимосвязь VDR-63980G&gt;A с бронхиальной астмой у детей. Наличие генотипа - 63980АА гена VDR увеличивает риск формирования бронхиальной астмы у ребенка в 1,85 раза (ОR=1,85, [ДИ 1,02-3,38]; χ 2=4,22, р=0,04). Гомозиготный генотип -63980GG чаще встречался у лиц контрольной группы – в 49,5% против 45,4% у больных детей. Генотип минорной гомозиготы -63980АА ассоциирован с ранним дебютом заболевания, выраженными обструктивными нарушениями легочной вентиляции.</p></sec><sec><title>Заключение</title><p>Заключение. Выявлена ассоциация генотипа -63980АА гена VDR с риском развития БА у детей в дошкольном возрасте. </p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Introduction</title><p>Introduction. The development of chronic allergic inflammation of the respiratory tract is determined by various genes. It is assumed that the clinical features of the course of bronchial asthma may be associated with singlet polymorphism of the vitamin D receptor.</p></sec><sec><title>Аim</title><p>Аim. To analyze the frequency of occurrence of polymorphic variants of the VDR-63980G&gt;A gene and evaluate their association with the features of the development and course of bronchial asthma in children.</p></sec><sec><title>Materials and methods</title><p>Materials and methods. To study the association of the VDR-63980G&gt;A gene polymorphism with bronchial asthma in children, 154 patients with bronchial asthma aged 1 to 18 years and 116 healthy subjects were selected. The objective status of the patients was assessed with the clarification of the anamnesis, standard laboratory and instrumental examination. Single nucleotide substitutions were typed by polymerase chain reaction with real-time detection of the results. The genotype distribution was evaluated using the “Gen-Expert” program.</p></sec><sec><title>Results</title><p>Results. As a result of the association analysis, the relationship of VDR-63980G&gt;A with bronchial asthma in children was established. The presence of genotype -63980AA of the VDR gene increases the risk of developing bronchial asthma in a child by 1.85 times (OR=1.85, [CI 1.02-3.38]; χ 2=4.22, p=0.04). The homozygous genotype -63980GG was more common in the control group – in 49.5% versus 45.4% against the sick children. The genotype of the minor homozygote -63980AA is associated with the early onset of the disease, pronounced obstructive pulmonary ventilation disorders.</p></sec><sec><title>Conclusion</title><p>Conclusion. The association of genotype -63980AA of the VDR gene with the risk of asthma development in preschool children was revealed. </p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>бронхиальная астма</kwd><kwd>генетический полиморфизм</kwd><kwd>ген VDR</kwd></kwd-group><kwd-group xml:lang="en"><kwd>bronchial asthma</kwd><kwd>genetic polymorphism</kwd><kwd>VDR gene</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">Pividori M., Schoettler N., Nicolae D.L., Ober C., Im H.K. Shared and distinct genetic risk factors for childhoodonset and adult-onset asthma: genome-wide and transcriptome-wide studies // Lancet. Respir. Med. 2019. Vol.№7, №6. Р. 509–522. doi: 10.1016/S2213-2600(19)30055-4</mixed-citation><mixed-citation xml:lang="en">Pividori M., Schoettler N., Nicolae D.L., Ober C., Im H.K. 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