Polygenic Score (PGS) ID: PGS004930

Predicted Trait
Reported Trait Celiac disease
Mapped Trait(s) celiac disease (EFO_0001060)
Released in PGS Catalog: Sept. 19, 2024
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Score Details

Score Construction
PGS Name celiac_disease_snpnet_combined
Development Method
Name SnpNet
Parameters lambda = 200; alpha=1; ncores=20
Variants
Original Genome Build hg19
Number of Variants 463
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000665
Citation (link to publication) Moreno-Grau S et al. Human Genomics (2024)
Ancestry Distribution
Score Development/Training
European: 100%
285,899 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 1,962 cases
  • , 283,937 controls
]
,
46.0 % Male samples
 European
(British)		 UKB — Mean = 56.73 years
Sd = 8.02 years		 — — —

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
PPM021718 PSS011762|
European Ancestry|
8,417 individuals
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
 Reported Trait: Celiac disease OR: 1.52 [1.35, 1.71] AUROC: 0.67 — — —

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
PSS011762 — — 8,417 individuals — European — BBofA —