Publications
American journal of human geneticsFeb 2024 |
111
(
2
),
280-294
DOI:
10.1016/j.ajhg.2023.12.008

Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis

Shook, Molly S; Lu, Xiaoming; Chen, Xiaoting; Parameswaran, Sreeja; Edsall, Lee; Trimarchi, Michael P; Ernst, Kevin; Granitto, Marissa; Forney, Carmy; Donmez, Omer A; Diouf, Arame A; VonHandorf, Andrew; Rothenberg, Marc E; Weirauch, Matthew T; Kottyan, Leah C
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Abstract
Eosinophilic esophagitis (EoE) is a rare atopic disorder associated with esophageal dysfunction, including difficulty swallowing, food impaction, and inflammation, that develops in a small subset of people with food allergies. Genome-wide association studies (GWASs) have identified 9 independent EoE risk loci reaching genome-wide significance (p 
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Oligo Pools

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