Фенотипическое разнообразие муковисцидоза: патогенез и модифицирующие факторы

Патогенные варианты гена CFTR являются инициирующим и доминирующим генетическим фактором, определяющим фенотипические проявления при муковисцидозе (МВ). МВ является моногенным заболеванием, однако сильное влияние на тяжесть протекания МВ оказывают гены-модификаторы, которые сами по себе не вызывают заболевание. Индивидуальные полиморфизмы генов-модификаторов могут как усиливать, так и ослаблять симптомы, что объясняет сильно варьирующиеся клинические проявления у людей с одинаковым генотипом по CFTR.

муковисцидоз, CFTR-канал, электрохимический градиент, гены-модификаторы, легкие, поджелудочная железа

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