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The title of this paper is: Overlap of Genomic and Transcriptomic Genes Identified in Familial Eosinophilic Esophagitis.
The first author is: Kristina Allen-Brady
The paper was published in: 'Gastroenterology' on the first of June 2025.

For those in a hurry, here is a brief overview of the paper: In this study of familial eosinophilic esophagitis (EoE), whole-exome sequencing of distantly related affected relatives across 21 pedigrees uncovered 189 rare, potentially pathogenic variants shared by all affected members in each family, while RNA sequencing of esophageal biopsies from 43 EoE cases (and six unaffected relatives) revealed 698 differentially expressed genes compared to controls. By intersecting these data sets, the authors pinpointed MUC16, ADGRE1, and TENM3—genes linked to epithelial barrier function, eosinophil-associated immune signaling, and cell–cell adhesion, respectively—as prime candidates carrying both familial rare variants and aberrant expression in disease tissue. An additional 36 genes showed partial co‐segregation of rare variants with altered expression, and several known EoE‐related transcripts were already dysregulated in unaffected relatives, suggesting a genetically primed, “multi‐hit” pathogenesis. Altogether, these findings implicate immune dysregulation, barrier defects, and adhesion pathways in familial EoE susceptibility, supporting a model where inherited genetic variants establish a vulnerable background that requires further environmental or molecular insults to trigger overt disease.

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