Популяционные особенности распространенности и клинико-диагностической значимости полиморфизмов гена NOD2, ассоциированных с болезнью Крона

Цель обзора. Рассмотреть особенности распространенности и клинико-диагностической значимости полиморфизмов R702W, G908R и 3020insC гена NOD2, ассоциированных с болезнью Крона (БК), в различных популяциях и регионах мира. Основные положения. Установлено, что имеются достоверные различия распространенности и клинической реализации полиморфизмов R702W, G908R и 3020insC гена NOD2, ассоциированных с БК, не только в разных странах, но и в различных регионах одной страны и среди представителей этнических групп, проживающих в разных регионах. Для одних популяций характерна высокая распространенность указанных полиморфизмов при отсутствии ассоциаций с риском развития БК, для других - их низкая распространенность при наличии таких ассоциаций, для третьих показано отсутствие ассоциаций с риском развития болезни Крона, но их наличие с особенностями клинического течения болезни, эффективностью терапии и необходимостью оперативного лечения. Заключение. На основании анализа данных литературы можно сделать вывод, что имеются четко выраженные популяционные особенности распространенности и клинико-диагностической значимости полиморфизмов гена NOD2, ассоциированных с болезнью Крона, что предопределяет необходимость создания международного банка данных о всех нуклеотидных полиморфизмах генов, ассоциированных с различными звеньями патогенеза БК в различных странах и популяциях. Это позволит не только повысить эффективность ранней диагностики и прогноза риска развития болезни Крона, но и выявить средовые факторы, влияющие на клиническую реализацию генетических факторов, что является предпосылкой для разработки патогенетически обоснованных лечебно-профилактических и диагностических мероприятий с учетом популяционных и региональных особенностей.

болезнь Крона, полиморфизмы гена NOD2, популяционные особенности, клиническая реализация

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