Polygenic Score (PGS) ID: PGS012513

Predicted Trait
Reported Trait Eosinophilic esophagitis (EOE)
Mapped Trait(s) eosinophilic esophagitis (MONDO_0005361)
Released in PGS Catalog: April 13, 2026
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Score Details

Score Construction
PGS Name eoe
Development Method
Name PRS-CSx
Parameters Bayesian continuous shrinkage that infers posterior SNP effect sizes using GWAS summary statistics derived from MTAG analyses of EoE and related atopic diseases, while accounting for LD using the 1000 Genomes Phase 3 reference panel.
Variants
Original Genome Build GRCh37
Number of Variants 1,039,900
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000785
Citation (link to publication) Trimarchi MP et al. J Allergy Clin Immunol (2026)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
16,224 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 40470207
[
  • 1,757 cases
  • , 14,467 controls
]
 European NR

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) 		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 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 —