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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">diaendo</journal-id><journal-title-group><journal-title xml:lang="ru">Сахарный диабет</journal-title><trans-title-group xml:lang="en"><trans-title>Diabetes mellitus</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2072-0351</issn><issn pub-type="epub">2072-0378</issn><publisher><publisher-name>Endocrinology research centre</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14341/DM2004138-45</article-id><article-id custom-type="elpub" pub-id-type="custom">diaendo-7111</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>Генетика</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Genetics</subject></subj-group></article-categories><title-group><article-title>Анализ ассоциаций полиморфного маркера rs7903146 гена TCF7L2 с сахарным диабетом 2 типа в татарской этнической группе, проживающей в Башкортостане</article-title><trans-title-group xml:lang="en"><trans-title>The association of TCF7L2 rs7903146 polymorphism with type 2 diabetes mellitus among Tatars of Bashkortostan</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1590-6433</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Авзалетдинова</surname><given-names>Диана Шамилевна</given-names></name><name name-style="western" xml:lang="en"><surname>Avzaletdinova</surname><given-names>Diana S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>кандидат медицинских наук, доцент кафедры эндокринологии</p></bio><bio xml:lang="en"><p>MD, Ph.D., Senior lecturer of Endocrinology department</p></bio><email xlink:type="simple">hyppocrat@mail.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>Шарипова</surname><given-names>Лейсан Фаритовна</given-names></name><name name-style="western" xml:lang="en"><surname>Sharipova</surname><given-names>Leisan F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>аспирант</p></bio><bio xml:lang="en"><p>MD, Postgraduate student of Endocrinology department</p></bio><email xlink:type="simple">nauruzovaleisan@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/0000-0002-2944-4428</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кочетова</surname><given-names>Ольга Владимировна</given-names></name><name name-style="western" xml:lang="en"><surname>Kochetova</surname><given-names>Olga V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>кандидат биологических наук, научный сотрудник</p></bio><bio xml:lang="en"><p>Ph.D. in Biology, Research associate</p></bio><email xlink:type="simple">olga_mk78@mail.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>Моругова</surname><given-names>Татьяна Вячеславовна</given-names></name><name name-style="western" xml:lang="en"><surname>Morugova</surname><given-names>Tatyana Vyacheslavovna</given-names></name></name-alternatives><bio xml:lang="ru"><p>доктор медицинских наук, профессор, заведующая кафедрой эндокринологии</p></bio><bio xml:lang="en"><p>MD, PhD, Professor, Chief of Endocrinology department</p></bio><email xlink:type="simple">tmorugova@yandex.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>Эрдман</surname><given-names>Вера Викторовна</given-names></name><name name-style="western" xml:lang="en"><surname>Erdman</surname><given-names>Vera V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>кандидат биологических наук</p></bio><bio xml:lang="en"><p>PhD in Biology</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сомова</surname><given-names>Регина Шамилевна</given-names></name><name name-style="western" xml:lang="en"><surname>Somova</surname><given-names>Regina S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>кандидат биологических наук, научный сотрудник</p></bio><bio xml:lang="en"><p>PhD in Biology, Reseach associate</p></bio><email xlink:type="simple">remuscom@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5118-6533</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мустафина</surname><given-names>Ольга Евгеньевна</given-names></name><name name-style="western" xml:lang="en"><surname>Mustafina</surname><given-names>Olga E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>доктор биологических наук, заведующая лабораторией</p></bio><bio xml:lang="en"><p>PhD in Biology, Chief of laboratory</p></bio><email xlink:type="simple">anmareg@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ГБОУ ВПО Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University, Ufa</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУН Институт биохимии и генетики Уфимского научного центра РАН</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Sciences, Ufa</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2016</year></pub-date><pub-date pub-type="epub"><day>07</day><month>12</month><year>2015</year></pub-date><volume>19</volume><issue>2</issue><fpage>119</fpage><lpage>124</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Авзалетдинова Д.Ш., Шарипова Л.Ф., Кочетова О.В., Моругова Т.В., Эрдман В.В., Сомова Р.Ш., Мустафина О.Е., 2016</copyright-statement><copyright-year>2016</copyright-year><copyright-holder xml:lang="ru">Авзалетдинова Д.Ш., Шарипова Л.Ф., Кочетова О.В., Моругова Т.В., Эрдман В.В., Сомова Р.Ш., Мустафина О.Е.</copyright-holder><copyright-holder xml:lang="en">Avzaletdinova D.S., Sharipova L.F., Kochetova O.V., Morugova T.V., Erdman V.V., Somova R.S., Mustafina O.E.</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.dia-endojournals.ru/jour/article/view/7111">https://www.dia-endojournals.ru/jour/article/view/7111</self-uri><abstract><sec><title>Цель</title><p>Цель. Провести анализ ассоциаций полиморфизма rs7903146 гена TCF7L2 (англ. Transcription factor 7-like 2 – транскрипционный фактор 7, подобный второму) с сахарным диабетом 2 типа (СД2) у жителей Башкортостана татарской этнической принадлежности. </p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. Обследованы 169 пациентов с СД2 и 286 лиц без клинических и лабораторных признаков диабета, а также без наследственной отягощенности по диабету . Амплификацию участков ДНК проводили с помощью полимеразной цепной реакции (ПЦР) в режиме реального времени с использованием TaqMan-зондов. </p></sec><sec><title>Результаты</title><p>Результаты. Выявлена более высокая частота генотипа СТ и аллеля Т в группе пациентов с СД2 при сопоставлении со здоровыми лицами (46,7% против 36,4%, Р=0,030; 41,7% против 30,8%, P=0,001 соответственно). У обладателей генотипа ТТ диабет манифестировал позже (в среднем в 59,5 лет), чем у пациентов с генотипами СТ и СС (56,1 лет, Р=0,044). Уровень базального С-пептида, показатели липидного обмена, а также индекс массы тела не отличались в зависимости от генотипов rs7903146 TCF7L2. </p></sec><sec><title>Заключение</title><p>Заключение. Полиморфизм rs7903146 гена TCF7L2 ассоциирован с СД2 у жителей Башкортостана татарской этнической принадлежности. Аллелем риска является аллель T (OR=1,61), протективным – аллель С (OR=0,62), Р=0,001. </p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Aim</title><p>Aim. To perform the analysis of the association of transcription factor 7-like 2 (TCF7L2) gene rs7903146 polymorphism with type 2 diabetes mellitus (T2DM) among Tatars of Bashkortostan. </p></sec><sec><title>Materials and methods</title><p>Materials and methods. In this study, 169 patients with T2DM and 286 controls without clinical symptoms and laboratory signs of diabetes and without diabetes relatives were examined. Amplification of the DNA fragments was performed using real-time polymerase chain reaction (PCR) and TaqMan technique. </p></sec><sec><title>Results</title><p>Results. Genotype CT and allele T ratios were higher in the T2DM group than in controls (46. 7% vs. 36. 4%, p = 0. 030; 41. 7% vs. 30. 8%, p = 0. 001 respectively). There was a positive association between allele T and T2DM (OR = 1. 61), and allele C had a protective effect (OR = 0. 62, p = 0,001). Carriers of the ТТ genotype had later onset of T2DM (mean = 59. 5 years old) compared with carriers of the CT and CC genotypes (56. 1 years old, p = 0. 044). Basal C-peptide concentration, lipid levels and body mass index were not associated with TCF7L2 rs7903146 polymorphism. </p></sec><sec><title>Conclusion</title><p>Conclusion. TCF7L2 rs7903146 polymorphism is associated with T2DM among Tatars of Bashkortostan. </p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>сахарный диабет 2 типа</kwd><kwd>TCF7L2</kwd><kwd>молекулярная генетика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>type 2 diabetes mellitus</kwd><kwd>TCF7L2</kwd><kwd>molecular genetics</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">Medici F, Hawa M, Ianari A, et al. Concordance rate for type II diabetes mellitus in monozygotic twins: actuarial analysis. Diabetologia. 1999;42(2):146-150. doi: 10.1007/s001250051132</mixed-citation><mixed-citation xml:lang="en">Medici F, Hawa M, Ianari A, et al. Concordance rate for type II diabetes mellitus in monozygotic twins: actuarial analysis. 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