Анализ распределения гаплотипов генов IL13 и ADAM33 у русских, хакасов и тувинцев в связи с риском развития бронхиальной астмы

Несмотря на значительные успехи в исследованиях молекулярных механизмов бронхиальной астмы (БА), остаются малоизученными популяционно-генетические особенности, особенно в мультиэтнических регионах России. Актуальность изучения патогенеза астмы определяется необходимостью выявления этноспецифичных генетических маркеров для совершенствования подходов к персонифицированному прогнозированию риска развития и тяжести течения БА. Целью работы был сравнительный анализ гаплотипических комбинаций в генах IL13 (rs20541, rs1800925, rs1295686) и ADAM33 (rs2280090, rs2787094, rs44707) между этническими группами для выявления потенциальных популяционно-специфичных генетических маркеров в локусах, ассоциированных с БА. В исследовании приняли участие 524 подростка в возрасте от 12 до 18 лет из Красноярска, Кызыла и Абакана, с верифицированной национальной принадлежностью (русские – 293, тувинцы – 158, хакасы – 73). ДНК выделяли из образцов слюны с последующим генотипированием полиморфных локусов генов IL13 (rs20541, rs1800925, rs1295686) и ADAM33 (rs2280090, rs2787094, rs44707) методом ПЦР в реальном времени. Установлено, что у русских редкие варианты полиморфизмов IL13 встречаются чаще по сравнению с тувинцами и хакасами. У хакасов и тувинцев в два-три раза чаще относительно русских встречается гаплотип ATC IL13. В русской популяции значимо чаще выявлялся гаплотип GAC гена ADAM33, содержащий редкие аллели всех исследованных полиморфизмов. Полученные данные подчеркивают актуальность анализа гаплотипов и важность учета этногеографических особенностей при оценке генетических рисков развития БА.

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