<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<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">10.1234/XXXX-XXXX-2016-4-25-28</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-112</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>МЕЖДУНАРОДНАЯ НАУЧНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ «АКТУАЛЬНЫЕ ПРОБЛЕМЫ МЕДИЦИНСКОЙ ГЕНЕТИКИ», 29-30 СЕНТЯБРЯ 2016 Г., Г.ТОМСК</subject></subj-group></article-categories><title-group><article-title>Репликация данных полногеномных анализов ассоциации атопического дерматита в Республике Башкортостан</article-title><trans-title-group xml:lang="en"><trans-title>Replication analysis of genome wide studies of atopic dermatitis in the Republic of Bashkortostan</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>Гималова</surname><given-names>Г. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Gimalova</surname><given-names>G. F.</given-names></name></name-alternatives><email xlink:type="simple">galiyagimalova@gmail.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>Карунас</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Karunas</surname><given-names>A. S.</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>Федорова</surname><given-names>Ю. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Fedorova</surname><given-names>Y. Y.</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>Гуменная</surname><given-names>Э. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Gumennaya</surname><given-names>E. R.</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>Левашева</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Levashova</surname><given-names>S. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Эткина</surname><given-names>Э. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Etkina</surname><given-names>E. I.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Институт биохимии и генетики Уфимского научного центра Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Scien</institution><country>Russian Federation</country></aff></aff-alternatives><aff xml:lang="ru" id="aff-2"><institution>Институт биохимии и генетики Уфимского научного центра Российской академии наук; Башкирский государственный университет; Bashkir State University</institution><country>Russian Federation</country></aff><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Республиканский кожно-венерологический диспансер</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Dermatovenerological Dispensary of the Republic of Bashkortostan</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Башкирский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Институт биохимии и генетики Уфимского научного центра Российской академии наук; Башкирский государственный университет; Bashkir State University</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Scien</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>10</month><year>2016</year></pub-date><volume>15</volume><issue>4</issue><fpage>25</fpage><lpage>28</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Гималова Г.Ф., Карунас А.С., Федорова Ю.Ю., Гуменная Э.Р., Левашева С.В., Эткина Э.И., Хуснутдинова Э.К., 2016</copyright-statement><copyright-year>2016</copyright-year><copyright-holder xml:lang="ru">Гималова Г.Ф., Карунас А.С., Федорова Ю.Ю., Гуменная Э.Р., Левашева С.В., Эткина Э.И., Хуснутдинова Э.К.</copyright-holder><copyright-holder xml:lang="en">Gimalova G.F., Karunas A.S., Fedorova Y.Y., Gumennaya E.R., Levashova S.V., Etkina E.I., Khusnutdinova E.K.</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/112">https://www.medgen-journal.ru/jour/article/view/112</self-uri><abstract><p>Атопический дерматит (АД) - хроническое воспалительное заболевание кожи, обычно проявляющееся в раннем детстве и часто предшествующее аллергическим заболеваниям. На сегодняшний день проведено несколько полногеномных анализов, выявивших ряд новых полиморфных локусов, ассоциированных с развитием АД. Нами исследованы полиморфные варианты, локализованные в хромосомной области 11q13.5 (гены C11orf30 и LRRC32 ), а также однонуклеотидные полиморфизмы генов KIF3A, OVOL1 и ACTL9. Показана ассоциация полиморфного локуса rs2508755 гена C11orf30 с развитием АД у татар.</p></abstract><trans-abstract xml:lang="en"><p>Atopic dermatitis (AD) - chronic inflammatory skin disease, which usually arise in early childhood and often precedes allergic diseases. To date several genome-wide analysis are conducted and they revealed some new polymorphic loci that are associated with atopic dermatitis development. We investigated polymorphic variants located in the 11q13.5 chromosomal region ( C11orf30 and LRRC32 genes), and SNPs in KIF3A, OVOL1 and ACTL9 genes as well. Association of rs2508755 polymorphism of the C11orf30 gene with atopic dermatitis in Tatars was shown.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>атопический дерматит</kwd><kwd>полногеномный анализ ассоциации</kwd><kwd>гены</kwd><kwd>полиморфные варианты</kwd><kwd>atopic dermatitis</kwd><kwd>genome-wide association study</kwd><kwd>genes</kwd><kwd>polymorphic variants</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">Odhiambo JA, Williams HC, Clayton TO et al. Global variations in prevalence of eczema symptoms in children from ISAAC Phase Three. J Allergy Clin Immunol. 2009;124:1251-1258.</mixed-citation><mixed-citation xml:lang="en">Odhiambo JA, Williams HC, Clayton TO et al. Global variations in prevalence of eczema symptoms in children from ISAAC Phase Three. J Allergy Clin Immunol. 2009;124:1251-1258.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Schultz-Larsen F, Holm NV, Henningsen K. Atopic dermatitis: a genetic-epidemiologic study in a population-based twin study. J Am Acad Dermatol. 1993;28:719-23.</mixed-citation><mixed-citation xml:lang="en">Schultz-Larsen F, Holm NV, Henningsen K. Atopic dermatitis: a genetic-epidemiologic study in a population-based twin study. J Am Acad Dermatol. 1993;28:719-23.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Williams HC. Clinical practice: atopic dermatitis. NEJM. 2005;352:2314-2324.</mixed-citation><mixed-citation xml:lang="en">Williams HC. Clinical practice: atopic dermatitis. NEJM. 2005;352:2314-2324.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Esparza-Gordillo J, Weidinger S, Folster-Holst R et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet. 2009;41:596-601.</mixed-citation><mixed-citation xml:lang="en">Esparza-Gordillo J, Weidinger S, Folster-Holst R et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet. 2009;41:596-601.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Hughes-Davies L, Huntsman D, Ruas M et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell. 2003;115:523-535.</mixed-citation><mixed-citation xml:lang="en">Hughes-Davies L, Huntsman D, Ruas M et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell. 2003;115:523-535.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Ollendorff V, Szepetowski P, Mattei M-G et al. New gene in the homologous human 11q13-q14 and mouse 7F chromosomal regions. Mamm Genome. 1992;2:195-200.</mixed-citation><mixed-citation xml:lang="en">Ollendorff V, Szepetowski P, Mattei M-G et al. New gene in the homologous human 11q13-q14 and mouse 7F chromosomal regions. Mamm Genome. 1992;2:195-200.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Paternoster L, Standl M, Chen CM et al. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic. Nat Genet. 2011;44(2):187-192.</mixed-citation><mixed-citation xml:lang="en">Paternoster L, Standl M, Chen CM et al. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic. Nat Genet. 2011;44(2):187-192.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Hirota T, Takahashi A, Kubo M et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet. 2012;44(11):1222-1226.</mixed-citation><mixed-citation xml:lang="en">Hirota T, Takahashi A, Kubo M et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet. 2012;44(11):1222-1226.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">O’Regan GM, Campbell LE Irvine AD et al. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol. 2010;125(1):170-4.</mixed-citation><mixed-citation xml:lang="en">O’Regan GM, Campbell LE Irvine AD et al. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol. 2010;125(1):170-4.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Ramasamy A, Curjuric I, Coin LJ, et al. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. J Allergy Clin Immunol. 2011;128(5):996-1005.</mixed-citation><mixed-citation xml:lang="en">Ramasamy A, Curjuric I, Coin LJ, et al. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. J Allergy Clin Immunol. 2011;128(5):996-1005.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Li X, Ampleford EJ, Howard TD et al. The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients. J Allergy Clin Immunol. 2012;129(2):575-578.</mixed-citation><mixed-citation xml:lang="en">Li X, Ampleford EJ, Howard TD et al. The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients. J Allergy Clin Immunol. 2012;129(2):575-578.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Ezell SA., Tsichlis PN. Akt1, EMSY, BRCA2 and type I IFN signaling: a novel arm of the IFN response. Transcription. 2012;3(6):305-309.</mixed-citation><mixed-citation xml:lang="en">Ezell SA., Tsichlis PN. Akt1, EMSY, BRCA2 and type I IFN signaling: a novel arm of the IFN response. Transcription. 2012;3(6):305-309.</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>
