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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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2020.04.41-42</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-1148</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>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Исследование ассоциации полиморфизма гена серотонинового рецептора HTR2C rs6318 (C23S) с синдромом зависимости от психоактивных веществ</article-title><trans-title-group xml:lang="en"><trans-title>Association of genetic polymorphisms of HTR2C gene with substance dependence syndrome</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Есакова</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Esakova</surname><given-names>A. P.</given-names></name></name-alternatives><email xlink:type="simple">a.yesakova@gmail.com</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>Мацкевич</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Matskevich</surname><given-names>V. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Аксёнова</surname><given-names>М. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Aksenova</surname><given-names>M. G.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Григорьева</surname><given-names>Ю. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Grigorieva</surname><given-names>J. O.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Брюн</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bryun</surname><given-names>E. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Акуленко</surname><given-names>Л. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Akulenko</surname><given-names>L. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ГБУЗ «Московский Научно-Практический Центр Наркологии ДЗМ»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Research and Practical Centre for Narcology of the Department of Public Health; A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ГБУЗ «Московский Научно-Практический Центр Наркологии ДЗМ»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Research and Practical Centre for Narcology of the Department of Public Health</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ГБУЗ «Московский Научно-Практический Центр Наркологии ДЗМ»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Research and Practical Centre for Narcology of the Department of Public Health; Center for Strategic Planning of MinZdrav</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГБОУ ВО «Московский государственный медико-стоматологический университет им. А.И. Евдокимова» МЗ РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>15</day><month>09</month><year>2020</year></pub-date><volume>19</volume><issue>4</issue><fpage>41</fpage><lpage>42</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Есакова А.П., Мацкевич В.А., Аксёнова М.Г., Григорьева Ю.О., Брюн Е.А., Акуленко Л.В., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Есакова А.П., Мацкевич В.А., Аксёнова М.Г., Григорьева Ю.О., Брюн Е.А., Акуленко Л.В.</copyright-holder><copyright-holder xml:lang="en">Esakova A.P., Matskevich V.A., Aksenova M.G., Grigorieva J.O., Bryun E.A., Akulenko L.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://www.medgen-journal.ru/jour/article/view/1148">https://www.medgen-journal.ru/jour/article/view/1148</self-uri><abstract><p>Серотониновые рецепторы участвуют в регуляции настроения, аппетита и различных аспектов поведения. Рецепторы 5-HT2C регулируют высвобождение дофамина в полосатом теле, префронтальной коре, прилежащем ядре, гиппокампе, гипоталамусе, миндалине и некоторых других структурах мозга. Целью исследования было изучение связи полиморфизма гена HTR2C c синдромом зависимости от психоактивных веществ. В исследование было включено 1097 человек, из которых 773 человека были здоровы в отношении наркологических заболеваний, 324 были пациентами, госпитализированными с диагнозом синдром отмены, вызванным употреблением психоактивных веществ. Когорта здоровых была представлена 473 женщинами и 300 мужчинами, в то время как больных - 220 мужчинами и 104 женщинами. Частоты аллелей локуса rs6318 у женщин распределились следующим образом: у больных fG= 0,861 fC = 0,139, у здоровых fG= 0,865 fC = 0,135. ORС = 1,04 (CI=0,95: 0,67-1,60). Частоты аллелей локуса rs6318 у мужчин распределились следующим образом: у больных fG= 0,841 fC = 0,159, у здоровых fG= 0,87 fC = 0,13. ORС = 1,27 (CI=0,95: 0,77-2,07).</p></abstract><trans-abstract xml:lang="en"><p>Serotonin receptors are involved in regulation of mood, appetite and different aspects of behavior. 5-HT2C receptors modulate dopamine release in the striatum, prefrontal cortex, nucleus accumbens, hippocampus, amygdala, hypothalamus and some other brain structures. HTR2C genetic polymorphism rs6318 is known to lead to a substitution of serine for cysteine at codon 23 (Cys23Ser). There is some evidence that the Ser23 C allele is supposed to be more active than the Cys23 G allele. Despite of numerous articles about this polymorphism, the data on its contribution to substance dependence syndrome is missing. The aim of this study was to assess possible association between HTR2C rs6318 polymorphism and substance dependence syndrome. The study included 1087 participants: 773 controls and 324 patients, diagnosed with psychoactive substance dependence with withdrawal. The allele frequencies of rs6318 polymorphism were: fG= 0.861 fC = 0.139 in female patients, fG= 0.865 fC = 0.135 in female controls, in male patients fG= 0.841 fC = 0.159, and in male controls fG= 0.87 fC = 0.13.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>однонуклеотидный полиморфизм</kwd><kwd>наследственная предрасположенность</kwd><kwd>синдром зависимости от психоактивных веществ</kwd><kwd>серотониновый рецептор типа 2С</kwd><kwd>HTR2C</kwd><kwd>SNP</kwd><kwd>substance dependence</kwd><kwd>HTR2C</kwd><kwd>serotonin receptor</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></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>
