Значение полногеномных исследований ассоциаций и генетических шкал риска для прогнозирования развития сахарного диабета 2-го типа, его осложнений и фармакогенетики

Сахарный диабет (СД) 2-го типа – комплексное наследственное метаболическое расстройство, характеризующееся нарушением регуляции гомеостаза глюкозы, возникающим из-за снижения секреции инсулина и/или развития резистентности тканей к инсулину. Полногеномные исследования ассоциаций (GWAS) успешно выявили сотни генетических локусов, связанных с риском развития СД 2-го типа, что свидетельствует о вовлечении многочисленных генов в его патогенез. Оценка генетических рисков может помочь в прогнозировании развития заболевания и выделении групп риска, в которых возможно более прицельное проведение профилактических мероприятий, включающих изменение образа жизни. Кроме того, выявление пациентов с высоким риском развития СД 2-го типа позволит проводить более раннюю диагностику и эффективное лечение на этапе минимальных нарушений углеводного обмена. Расширение знаний о патогенезе заболевания на основе знаний о функциях, ассоциированных с СД 2-го типа генов, может помочь в разработке новых лекарственных препаратов для контроля углеводного обмена. В перспективе трансляция генетических данных в клиническую практику имеет большой потенциал для индивидуализации управления СД 2-го типа в зависимости от ведущего патогенетического механизма его развития. В этом обзоре рассматриваются текущие достижения в области генетических исследований СД 2-го типа и возможности использования имеющихся данных в прецизионной медицине. Мы обсуждаем использование генетических данных для прогнозирования риска развития СД 2-го типа и его осложнений, а также перспективы оценки индивидуального ответа на медикаментозную терапию и изменение образа жизни.

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