Polygenic Score (PGS) ID: PGS001307

Predicted Trait
Reported Trait Ulcerative colitis (time-to-event)
Mapped Trait(s) ulcerative colitis (EFO_0000729)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC1102
Released in PGS Catalog: Oct. 21, 2021
Download Score FTP directory
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 GBE_HC1102
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 809
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. PLoS Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
269,704 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
South Asian: 20%
5 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
[
  • 2,950 cases
  • , 266,754 controls
]
European UKB white British ancestry

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
PPM009029 PSS004119|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE ulcerative colitis AUROC: 0.62873 [0.51002, 0.74744] : 0.04344
Incremental AUROC (full-covars): -0.00895
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.50641 [0.39121, 0.62161]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009030 PSS004120|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE ulcerative colitis AUROC: 0.89582 [0.79576, 0.99588] : 0.20607
Incremental AUROC (full-covars): -0.00177
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.55433 [0.4473, 0.66136]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009031 PSS004121|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE ulcerative colitis AUROC: 0.65578 [0.62353, 0.68804] : 0.03272
Incremental AUROC (full-covars): 0.04212
PGS R2 (no covariates): 0.0169
PGS AUROC (no covariates): 0.6106 [0.57717, 0.64402]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009032 PSS004122|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE ulcerative colitis AUROC: 0.66008 [0.61042, 0.70974] : 0.03192
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.0036
PGS AUROC (no covariates): 0.55808 [0.506, 0.61016]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009033 PSS004123|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE ulcerative colitis AUROC: 0.63965 [0.62036, 0.65895] : 0.02376
Incremental AUROC (full-covars): 0.1085
PGS R2 (no covariates): 0.02383
PGS AUROC (no covariates): 0.63847 [0.61861, 0.65833]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004119
[
  • 27 cases
  • , 6,470 controls
]
African unspecified UKB
PSS004120
[
  • 5 cases
  • , 1,699 controls
]
East Asian UKB
PSS004121
[
  • 260 cases
  • , 24,645 controls
]
European non-white British ancestry UKB
PSS004122
[
  • 113 cases
  • , 7,718 controls
]
South Asian UKB
PSS004123
[
  • 788 cases
  • , 66,637 controls
]
European white British ancestry UKB Testing cohort (heldout set)