Polygenic Score (PGS) ID: PGS004270

Predicted Trait
Reported Trait Inflammatory bowel disease
Mapped Trait(s) inflammatory bowel disease (EFO_0003767)
Released in PGS Catalog: June 12, 2024
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Score Details

Score Construction
PGS Name GenoBoost_inflammatory_bowel_disease_0
Development Method
Name GenoBoost
Parameters lr=0.5, #snv=20, model=Additive GenoBoost
Variants
Original Genome Build hg19
Number of Variants 20
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000546
Citation (link to publication) Ohta R et al. Nat Commun (2024)
Ancestry Distribution
Score Development/Training
European: 100%
269,710 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
—
[
  • 2,940 cases
  • , 266,770 controls
]
,
46.4 % Male samples
 European
(White British)		 UKB — — — — —

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
PPM020338 PSS011341|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Inflammatory bowel disease — AUROC: 0.57093 Covariate-adjusted pseudo-R2: 0.00624
AUPRC: 0.01652		 age, sex, PC1-10 —

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
PSS011341 — —
[
  • 763 cases
  • , 66,665 controls
]
,
46.0 % Male samples
 — European
(White British)		 — UKB —