| Publication Information (EuropePMC) | |
| Title | Multi-trait Analysis of GWAS Expands Eosinophilic Esophagitis Genetic Susceptibility and Polygenic Risk Scores. |
| PubMed ID | 41865802(Europe PMC) |
| doi | 10.1016/j.jaci.2026.03.008 |
| Publication Date | March 20, 2026 |
| Journal | J Allergy Clin Immunol |
| Author(s) | Trimarchi MP, Namjou-Khales B, Ben-Baruch Morgenstern N, Rochman M, Chen X, Osswald GA, Besse JA, Shook MS, Caldwell JM, Lape M, Shoda T, Weirauch MT, Ruffner MA, Constantine GM, Martin LJ, Kottyan LC, Rothenberg ME, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) Investigators. |
| 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 |
|
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 | — |
|
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 | — | — | [
|
— | European | — | NR | — |