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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">10.25557/2073-7998.2019.01.39-44</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-624</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>Влияние полиморфизма-344C&gt;T гена альдостеронсинтазыCYP11B2 на риск развития гипертензивных нарушений у беременных узбекской национальности</article-title><trans-title-group xml:lang="en"><trans-title>Effect of aldosterone synthase gene CYP11B2 polymorphism 344C&gt;T and risk of hypertensive disorders among Uzbek women</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>Ашурова</surname><given-names>У. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Ashurova</surname><given-names>U. A.</given-names></name></name-alternatives><email xlink:type="simple">umida.ashurova@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>Наджмутдинова</surname><given-names>Д. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Najmutdinova</surname><given-names>D. K.</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>Каримов</surname><given-names>Х. Я.</given-names></name><name name-style="western" xml:lang="en"><surname>Karimov</surname><given-names>K. Ya.</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>Бобоев</surname><given-names>К. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Boboev</surname><given-names>K. T.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Республиканский Специализированный Научно-Практический Медицинский Центр Акушерства и гинекологии</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Republican Specialized Scientific and Practical Medical Center of Obstetrics and Gynecology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Научно-исследовательский институт гематологии и переливания крови при Министерстве здравоохранения Республики Узбекистан</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2019</year></pub-date><pub-date pub-type="epub"><day>20</day><month>03</month><year>2019</year></pub-date><volume>18</volume><issue>1</issue><fpage>39</fpage><lpage>44</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ашурова У.А., Наджмутдинова Д.К., Каримов Х.Я., Бобоев К.Т., 2019</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="ru">Ашурова У.А., Наджмутдинова Д.К., Каримов Х.Я., Бобоев К.Т.</copyright-holder><copyright-holder xml:lang="en">Ashurova U.A., Najmutdinova D.K., Karimov K.Y., Boboev K.T.</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/624">https://www.medgen-journal.ru/jour/article/view/624</self-uri><abstract><p>Введение: Гипертензивные нарушения осложняют значительное количество беременностей и тем самым увеличивают показатели материнской и неонатальной смертности и заболеваемости. Изучение генов, которые могут влиять на риск развития данного ослож- нения гестации, способствует более полному пониманию патогенеза и определению терапевтических целей при данном нарушении. Цель: анализ ассоциации полиморфизма -344C&gt;T гена CYP11B2 с риском развития гипертензивных нарушений во время беремен- ности у женщин узбекской национальности.Материалы и методы: в исследование вошла 201 пациентка с гипертензивными нарушениями - основная группа, разделенная на 3 подгруппы: подгруппа А - 41 беременная с хронической артериальной гипертензией (ХАГ), подгруппа Б - 110 беременных с гестационной гипертензией (ГГ), подгруппа В - 50 беременных с преэклампсией (ПЭ). Контрольную группу составили 110 здоро- вых женщин репродуктивного возраста без хронических заболеваний и выраженной акушерской патологии в анамнезе. Все иссле- дуемые женщины были узбекской национальности. Детекция генетического полиморфизма -344C&gt;T гена CYP11B2 проводилась методом ПЦР на приборе «AppliedBiosystems» 2720 (США), с использованием набора реагентов компании ООО «Литех» (Москва). Результаты: У беременных женщин узбекской национальности с гипертензивными нарушениями выявлена высокая частота носи- тельства функционально неблагоприятного аллеля Т и генотипов С/Т и Т/Т полиморфизма -344C&gt;T в гене CYP11B2 по сравнению с контрольной выборкой. Уровень статистической значимости различий в частоте аллеля Т и генотипов С/Т и Т/Т между исследован- ными группами пациентов и контрольной выборкой оказался достаточно высоким. Соответственно, у носителей T аллеля, геноти- пов C/T и Т/Т риск развития гипертензивных нарушений был повышен в 2,8, 1,7 и 7,3 раз при χ2&gt;3,9; р&lt;0,05. При этом, гомозигот- ный генотип C/C оказался протективным в отношении формирования гипертензивных нарушений у женщин. При наличии данного генотипа риск гипертензивных нарушений был снижен более чем в 3 раза (χ2=20,8; р&lt;0,05; OR=0,3; 95%CI 0,20- 0,5). Данные наших исследований побуждают к дальнейшим поискам генетических полиморфизмов для прогнозирования риска развития гипертен- зии у женщин узбекской этнической принадлежности и разработки соответствующих мер профилактики.</p></abstract><trans-abstract xml:lang="en"><p>Introduсtion: Hypertensive disorders complicate a significant number of pregnancies and, thereby, increase the number of maternal and neonatal mortality, as well as the incidence of morbidity. The study of genes that may affect the risk of developing this complication of gestation contributes to a complete understanding of the pathogenesis and the definition of the therapeutic goals of this disorder.IISSSSNN 22007733--77999988 39Objective: analysis of the association of gene CYP11B2 polymorphism -344C&gt; T with the risk of hypertensive disorders during pregnancy among Uzbek women.Study design: the study included a group of 201 pregnant women with hypertensive disorders, who made up the main group, divided into 3 subgroups: subgroup A - 41 pregnant women with chronic arterial hypertension (CAG), subgroup B - 110 pregnant women with gesta- tional hypertension (GH), subgroup B - 50 pregnant women preeclampsia (PE). The control group consisted of 110 healthy women of repro- ductive age without chronic diseases and severe obstetric pathology in history. All women were Uzbek nationality. Determination of poly- morphism -344C&gt; T CYP11B2 gene was performed by PCR on an Applied Biosystems 2720 device (USA), using the set of Liteh LLC (Moscow). Results: According to the results of our studies in pregnant women of Uzbek nationality, with hypertensive disorders, a high carrier fre- quency was found for the functionally unfavorable T allele and the homo / heterozygous C / T and T / T genotypes of the -344C&gt; T CYP11B2 polymorphism compared with the control sample. The level of statistical significance of differences in the frequency of the T allele and the C / T and T / T genotypes between the studied groups of patients and the control sample was quite high. Accordingly, in T-allele carriers, C/ T and T / T genotypes, the risk of developing hypertensive disorders was increased by 2.8, 1.7, and 7.3 times with χ2&gt; 3.9; р &lt;0.05. At the same time, the homozygous C / C genotype proved to be protective against the formation of hypertensive disorders in women. With this genotype, the risk of hypertensive disorders was reduced by more than 3 times (χ2 = 20.8; р &lt;0.05; OR = 0.3; 95% CI 0.20-0.5). Results of our studies encourage for further searches of genetic polymorphisms, to predict the risk of developing hypertension in women of Uzbek eth- nicity and to develop appropriate preventive measures.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>гестационная гипертензия</kwd><kwd>альдостеронсинтаза</kwd><kwd>CYP11B2 gene</kwd><kwd>хроническая артериальная гипертензия</kwd><kwd>преэклампсия</kwd><kwd>gestational hypertension</kwd><kwd>chronic arterial hypertension</kwd><kwd>preeclampsia</kwd><kwd>aldosterone synthase</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">Redman CW, Sargent IL. Latest advances in understanding preeclampsia. 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