Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Abstract excerpt

Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Herein, we conduct whole-exome sequencing of a multigeneration EoE pedigree (discovery set) and 61 additional multiplex families with EoE (replication set). A series of rare, heterozygous, missense variants are identified in the genes encoding the desmosome-associated proteins DSP and PPL in 21%...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Eosinophilic Disorders and Syndromes
• Share to Eosinophilic Esophagitis
• Share to IL-33, ST2, and ILC Pathways