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Article

Systematic identification of genotype-dependent enhancer variants in eosinophilic esophagitis.

American journal of human genetics - 1 Feb 2024

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

Abstract excerpt

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 < 5 × 10-8) and 27 additional loci of suggestive significance...

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Identifiers

PMID: 38183988
DOI: 10.1016/j.ajhg.2023.12.008
PMCID: PMC10870143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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