PGS Publication: PGP000288

Publication Information (EuropePMC)
Title Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction.
PubMed ID 35232999(Europe PMC)
doi 10.1038/s41598-022-07401-2
Publication Date March 1, 2022
Journal Sci Rep
Author(s) Garcia-Etxebarria K, Merino O, Gaite-Reguero A, Rodrigues PM, Herrarte A, Etxart A, Ellinghaus D, Alonso-Galan H, Franke A, Marigorta UM, Bujanda L, D'Amato M.
Released in PGS Catalog: March 16, 2022

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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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000006 |
Khera AV et al. Nat Genet (2018)
Inflammatory bowel disease inflammatory bowel disease 6,907,112 - Check Terms/Licenses

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012874 PGS000017
European Ancestry|
1,433 individuals
PGP000288 |
Garcia-Etxebarria K et al. Sci Rep (2022)
Reported Trait: Inflammatory Bowel Disease AUROC: 0.69 [0.66, 0.72]

Evaluated Samples

PGS Sample Set ID
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
  • 498 cases
  • , 935 controls
European BV