Polygenic Score (PGS) ID: PGS004081

Predicted Trait
Reported Trait Inflammatory bowel disease (IBD)
Mapped Trait(s) inflammatory bowel disease (EFO_0003767)
Released in PGS Catalog: Dec. 19, 2023
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name prscs.auto.GCST004131.IBD
Development Method
Name PRS-CS-auto
Parameters phi:auto
Variants
Original Genome Build GRCh38
Number of Variants 1,073,268
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000517
Citation (link to publication) Monti R et al. Am J Hum Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • Not Reported
  • European
59,957 individuals (100%)
Score Development/Training
European: 100%
5,340 individuals (100%)
PGS Evaluation
European: 66.7%
South Asian: 33.3%
6 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
GWAS Catalog: GCST004131
Europe PMC: 28067908
59,957 individualsNR, EuropeanNR
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Score Development/Training
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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
—5,340 individualsEuropeanUKB—————
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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.

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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
PPM019275PSS011220|
European Ancestry|
199,274 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.33947 [1.28308976, 1.39832777]
β: 0.29227 [0.24927105, 0.33527707]		AUROC: 0.58008 [0.56735638, 0.59280726]R²: 0.01344 [0.00970498, 0.01810135]0beta = log(or)/sd_pgs
PPM019276PSS011231|
European Ancestry|
396,819 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.93798 [1.89456032, 1.98240343]
β: 0.66165 [0.63898679, 0.68430996]		AUROC: 0.67953 [0.67361679, 0.6854426]R²: 0.06822 [0.06357639, 0.07320471]0beta = log(or)/sd_pgs
PPM019277PSS011244|
South Asian Ancestry|
44,057 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.81701 [1.66277049, 1.98556228]
β: 0.59719 [0.50848518, 0.68590214]		AUROC: 0.67259 [0.64830467, 0.69688308]R²: 0.05668 [0.04059064, 0.07517712]0beta = log(or)/sd_pgs
PPM019278PSS011260|
European Ancestry|
66,865 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.52897 [1.45823629, 1.60314492]
β: 0.4246 [0.37722769, 0.47196727]		AUROC: 0.61659 [0.60309036, 0.63008776]R²: 0.02835 [0.02170599, 0.03546033]0beta = log(or)/sd_pgs
PPM019279PSS011288|
South Asian Ancestry|
9,326 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.64491 [1.41322114, 1.91457258]
β: 0.49768 [0.3458716, 0.6494944]		AUROC: 0.62997 [0.5852728, 0.67466127]R²: 0.03767 [0.01709617, 0.06692123]0beta = log(or)/sd_pgs
PPM019280PSS011273|
European Ancestry|
90,274 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Inflammatory bowel diseaseOR: 1.87137 [1.77212268, 1.97616972]
β: 0.62667 [0.57217808, 0.68116049]		AUROC: 0.67221 [0.65768122, 0.68674124]R²: 0.06119 [0.05135518, 0.07301252]0beta = log(or)/sd_pgs
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Evaluated Samples

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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
PSS011220——
[
  • 197,177 cases
  • , 2,097 controls
]
—European—EB—
PSS011231K11_IBD_STRICT, ICD10: K50|K51, ICD9: 555|556—
[
  • 389,004 cases
  • , 7,815 controls
]
—European—FinnGen—
PSS011244——
[
  • 43,591 cases
  • , 466 controls
]
—South Asian—G&H—
PSS011260——
[
  • 65,096 cases
  • , 1,769 controls
]
—European—HUNT—
PSS011273——
[
  • 1,335 cases
  • , 88,939 controls
]
—European—UKB—
PSS011288——
[
  • 168 cases
  • , 9,158 controls
]
—South Asian—UKB—
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