Trait: eosinophilic esophagitis

Trait Information
Identifier MONDO_0005361
Description Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). [Orphanet: 73247]
Trait category
Other trait
Synonym EoE

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS012513
(eoe)
 PGP000785 |
Trimarchi MP et al. J Allergy Clin Immunol (2026)
 Eosinophilic esophagitis (EOE) eosinophilic esophagitis 1,039,900
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012513/ScoringFiles/PGS012513.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM030557 PGS012513
(eoe)
 PSS012193|
European Ancestry|
3,837 individuals
 PGP000785 |
Trimarchi MP et al. J Allergy Clin Immunol (2026)
 Reported Trait: EoE OR: 1.71 [1.52, 1.92] AUROC: 0.8 [0.78, 0.81] R²: 0.2 age, sex, 10 PCs —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012193 — —
[
  • 724 cases
  • , 3,113 controls
]
 — European — NR —