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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">10.25557/2073-7998.2021.02.21-26</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-1875</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>Вклад некоторых факторов риска в развитие хронического панкреатита у носителей полиморфного локуса rs213950 гена СFTR</article-title><trans-title-group xml:lang="en"><trans-title>Contribution of risk factors in the development of chronic pancreatitis in carriers of rs213950 CFTR</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>Самгина</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Samgina</surname><given-names>T. A.</given-names></name></name-alternatives><email xlink:type="simple">tass@list.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>Колмыков</surname><given-names>Д. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Kolmykov</surname><given-names>D. I.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Мяснянкина</surname><given-names>Г. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Myasnyankina</surname><given-names>G. N.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Горбунов</surname><given-names>С. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Gorbunov</surname><given-names>S. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Азарова</surname><given-names>Ю. Э.</given-names></name><name name-style="western" xml:lang="en"><surname>Azarova</surname><given-names>Iu. E.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Канищев</surname><given-names>Ю. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kanishchev</surname><given-names>Yu. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Бондарев</surname><given-names>Г. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bondarev</surname><given-names>G. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Назаренко</surname><given-names>П. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Nazarenko</surname><given-names>P. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Полоников</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Polonikov</surname><given-names>A. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.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>Лазаренко</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Lazarenko</surname><given-names>V. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО «Курский государственный медицинский университет» Минздрава Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kursk State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2021</year></pub-date><pub-date pub-type="epub"><day>25</day><month>06</month><year>2021</year></pub-date><volume>20</volume><issue>2</issue><fpage>21</fpage><lpage>26</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Самгина Т.А., Колмыков Д.И., Мяснянкина Г.Н., Горбунов С.М., Азарова Ю.Э., Канищев Ю.В., Бондарев Г.А., Назаренко П.М., Полоников А.В., Лазаренко В.А., 2021</copyright-statement><copyright-year>2021</copyright-year><copyright-holder xml:lang="ru">Самгина Т.А., Колмыков Д.И., Мяснянкина Г.Н., Горбунов С.М., Азарова Ю.Э., Канищев Ю.В., Бондарев Г.А., Назаренко П.М., Полоников А.В., Лазаренко В.А.</copyright-holder><copyright-holder xml:lang="en">Samgina T.A., Kolmykov D.I., Myasnyankina G.N., Gorbunov S.M., Azarova I.E., Kanishchev Y.V., Bondarev G.A., Nazarenko P.M., Polonikov A.V., Lazarenko V.A.</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/1875">https://www.medgen-journal.ru/jour/article/view/1875</self-uri><abstract><p>К настоящему времени сложились представления о мультифакториальной природе панкреатита, в развитии которого играют роль, как генетические факторы, так и факторы окружающей среды. Цель: определить вклад некоторых факторов риска и полиморфного локуса rs213950 гена СFTR в развитие хронического панкреатита. Исследованы образцы ДНК, полученные от 302 неродственных больных хроническим панкреатитом и 465 неродственных индивидов без заболеваний ЖКТ. Генотипирование выполнено методом ПЦР с дискриминацией аллелей с помощью TaqMan-зондов. Для оценки ассоциаций аллелей и генотипов генов с риском развития заболевания использовали критерий χ2 и отношение шансов (OR) с 95% доверительными интервалами (CI). В ходе проведенного исследования обнаружена ассоциация аллеля А rs213950 гена СFTR с повышенным риском развития хронического панкреатита (OR=1,24, CI 95%=1,01-1,53, p=0,04). У курящих носителей генотипов A/G-A/A (OR=2,07, CI 95%=1,13-3,78, p=0,017D) и при злоупотреблении алкогольными напитками более 10 лет у носителей генотипа А/А (OR=2,23, CI 95%=1,12-4,47, р=0,02R) риск развития хронического панкреатита повышался.</p></abstract><trans-abstract xml:lang="en"><p>Chronic pancreatitis is the multifactorial disease, genetic and environmental factors play a role in the development of it. The aim was to determine the contribution of rs213950 CFTR gene to the risk of chronic pancreatitis (CP). DNA samples obtained from 302 unrelated patients with chronic pancreatitis and 465 unrelated individuals without gastrointestinal diseases. Genotyping was performed using the PCR method with discrimination of alleles using TaqMan probes. The χ2 criterion and the odds ratio (OR) with 95% confidence intervals (CI) were used to assess the associations of alleles and genotypes of genes with the risk of the disease. We found an association of the A allele rs213950 of the CFTR gene with an increased risk of chronic pancreatitis (OR=1,24, CI 95%=1,01-1,53, P=0,04). Also, the risk of CP increased in smokers with the A/G-A/A genotypes (OR=2,07, CI 95%=1,13-3,78, P=0,017D) and with alcohol abuse for more than 10 years in carriers of the A/A genotype (OR=2,23, CI 95%=1,12-4,47, P=0,02R). The frequency and volume of alcohol consumed in carriers of the rs213950 polymorphism of the CFTR gene didn’t reveal statistically significant differences.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>хронический панкреатит</kwd><kwd>полиморфный локус rs213950 гена СFTR</kwd></kwd-group><kwd-group xml:lang="en"><kwd>chronic pancreatitis</kwd><kwd>rs213950 polymorphism of the CFTR 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">Whitcomb D. C., Yadav D., Adam S., Hawes R. H. et al. 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Journal of Cystic Fibrosis. 2012; 11:58.</mixed-citation></citation-alternatives></ref></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>
