ssmuБюллетень сибирской медициныBulletin of Siberian Medicine1682-03631819-3684Siberian State Medical University, the Ministry of Healthcare of the Russian Federation10.20538/1682-0363-2013-3-61-68ssmu-340Research ArticleМЕЖДИСЦИПЛИНАРНЫЕ ФУНДАМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯ В МЕДИЦИНЕNTERDISCIPLINARY BASIC RESEARCH IN MEDICINEПОИСК ГЕНОВ ПОДВЕРЖЕННОСТИ ТУБЕРКУЛЕЗУ С ИСПОЛЬЗОВАНИЕМ РЕЗУЛЬТАТОВ ПОЛНОГЕНОМНОГО ИССЛЕДОВАНИЯ БОЛЕЗНИ КРОНАSEARCH OF TUBERCULOSIS SUSCEPTIBILITY GENES USING THE RESULTS OF GENOME-WIDE ASSOCIATION STUDY OF CROHN’S DISEASEРудкоА. А.RudkoA. A.aleksey.rudko@medgenetics.ruФрейдинМ. Б.FreidinM. B.

Фрейдин Максим Борисович – кандидат биологических наук,  старший научный сотрудник лаборатории популяционной генетики

aleksey.rudko@medgenetics.ruБрагинаЕ. Ю.BraginaYe. Yu.

Брагина Елена Юрьевна – кандидат биологических наук,  научный сотрудник лаборатории популяционной генетики

aleksey.rudko@medgenetics.ruАнА. Р.AnA. R.

Ан Адиля Рамизовна – аспирант кафедры медицинской генетики

aleksey.rudko@medgenetics.ruПузырёвВ. П.PuzyryovV. P.

Пузырёв Валерий Павлович –  доктор медицинских наук, профессор, академик РАМН, директор НИИ медицинской генетики СО РАМН, зав. кафедрой медицинской генетики СибГМУ

aleksey.rudko@medgenetics.ruНаучно-исследовательский институт медицинской генетики Сибирского отделения РАМН, ТомскРоссияInstitute of Medical Genetics SB RAMS, TomskRussian FederationСибирской государственный медицинский университет, ТомскРоссияSiberian State Medical University, TomskRussian FederationНаучно-исследовательский институт медицинской генетики Сибирского отделения РАМН, Томск; Сибирской государственный медицинский университет, ТомскРоссияInstitute of Medical Genetics SB RAMS, Tomsk; Siberian State Medical University, TomskRussian Federation2013280620131236168Copyright © Рудко А.А., Фрейдин М.Б., Брагина Е.Ю., Ан А.Р., Пузырёв В.П., 20132013Рудко А.А., Фрейдин М.Б., Брагина Е.Ю., Ан А.Р., Пузырёв В.П.Rudko A.A., Freidin M.B., Bragina Y.Y., An A.R., Puzyryov V.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://bulletin.ssmu.ru/jour/article/view/340

Болезнь Крона (БК) и туберкулез (ТБ) имеют сходные патогенетические механизмы, что предполагает также общность генетической компоненты подверженности этим болезням. Для обоснования этого предположения у русских Томской области и коренного населения Республики Тувы проведен анализ ассоциации ТБ с полиморфными вариантами генов, связанных по данным полногеномных исследований с БК. У русских впервые обнаружены статистически значимые ассоциации ТБ с полиморфизмами rs2872507 (ORMDL3), rs3810936 (TNFSF15), rs10192702 (ATG16L1), rs9286879 (1q24.3), rs10507523 (13q14.11). У тувинцев связь с заболеванием выявлена для полиморфных вариантов rs1407308 (TNFSF15)и rs1736135 (21q21.1). Обнаруженные ассоциации генных маркеров с заболеванием могут быть обусловлены функциональной ролью кодируемых белков и их патогенетическим влиянием на иммунные реакции, связанные с развитием инфекции. Таким образом, изучение полиморфизма генов, влияющих на развитие БК, позволило обнаружить новые гены-кандидаты подверженности ТБ.

Crohn’s disease (CD) and tuberculosis (TB) share several mechanisms of pathogenesis, and this suggests they also have common genetic susceptibility factors. To test this hypothesis, we performed the analysis of association between TB and polymorphisms of genes associated with CD, according to the results of genome-wide association studies, in Russians from Tomsk and indigenous people from Tuva. For the first time, The rs2872507 (ORMDL3), rs3810936 (TNFSF15), rs10192702 (ATG16L1), rs9286879 (1q24.3), rs10507523 (13q14.11) polymorphisms were found to be associated with TB in Russians. The rs1407308 (TNFSF15) and rs1736135 (21q21.1) were associated with the disease in Tuvinians. The associations found are likely due to the functional role of the relevant proteins and their pathogenetic influence on the immune reaction underlying tuberculosis infection. Overall, the study of polymorphisms associated with CD allowed us to identify new candidate genes for TB.

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The authors declare that there are no conflicts of interest present.