Polygenic Score (PGS) ID: PGS001249

Predicted Trait
Reported Trait Gout (time-to-event)
Mapped Trait(s) gout (EFO_0004274)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC1215
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_HC1215
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 1,796
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. medRxiv (2021) Preprint
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
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
[
  • 9,272 cases
  • , 260,432 controls
]
European white British ancestry 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
PPM008754 PSS004203|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.77537 [0.73576, 0.81498] : 0.12063
Incremental AUROC (full-covars): 0.01433
PGS R2 (no covariates): 0.01201
PGS AUROC (no covariates): 0.58952 [0.54447, 0.63458]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008755 PSS004204|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.8503 [0.79897, 0.90164] : 0.23863
Incremental AUROC (full-covars): 0.01971
PGS R2 (no covariates): 0.02733
PGS AUROC (no covariates): 0.62617 [0.54055, 0.7118]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008756 PSS004205|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.81772 [0.80388, 0.83156] : 0.17135
Incremental AUROC (full-covars): 0.02929
PGS R2 (no covariates): 0.03724
PGS AUROC (no covariates): 0.65807 [0.63913, 0.67702]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008757 PSS004206|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.76492 [0.73884, 0.79099] : 0.11928
Incremental AUROC (full-covars): 0.02377
PGS R2 (no covariates): 0.02209
PGS AUROC (no covariates): 0.61344 [0.57941, 0.64746]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008758 PSS004207|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.79258 [0.7842, 0.80095] : 0.14867
Incremental AUROC (full-covars): 0.03784
PGS R2 (no covariates): 0.03919
PGS AUROC (no covariates): 0.65389 [0.64293, 0.66484]
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
PSS004203
[
  • 145 cases
  • , 6,352 controls
]
African unspecified UKB
PSS004204
[
  • 46 cases
  • , 1,658 controls
]
East Asian UKB
PSS004205
[
  • 749 cases
  • , 24,156 controls
]
European non-white British ancestry UKB
PSS004206
[
  • 286 cases
  • , 7,545 controls
]
South Asian UKB
PSS004207
[
  • 2,391 cases
  • , 65,034 controls
]
European white British ancestry UKB Testing cohort (heldout set)