Eosinophilic esophagitis (EoE) is a complex, polygenic disorder caused by genetic predisposition and environmental exposures. Because of the recent emergence of EoE as a bona fide global health concern, a paucity of available therapeutic and diagnostic options exists. However, rapid progress has been made in an effort to rectify this lack and to improve understanding of the factors that cause EoE. This article highlights key advances in elucidating the genetic (and epigenetic) components involved in EoE.
Key points
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Eosinophilic esophagitis (EoE) is a complex, polygenic disorder.
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Disease risk variants and an altered esophageal transcriptional profile underlie the genetic origin of EoE.
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Emerging epigenetic modifications link environmental exposures to the genetic dysregulation in EoE.