Polygenic Score (PGS) ID: PGS001295

Predicted Trait
Reported Trait Type 2 diabetes
Mapped Trait(s) type II diabetes mellitus (EFO_0001360)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC165
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_HC165
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 385
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
[
  • 2,188 cases
  • , 267,516 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
PPM008973 PSS004312|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Type 2 diabetes AUROC: 0.68145 [0.62426, 0.73864] : 0.04466
Incremental AUROC (full-covars): 0.00427
PGS R2 (no covariates): 0.00162
PGS AUROC (no covariates): 0.5359 [0.47698, 0.59482]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008974 PSS004313|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Type 2 diabetes AUROC: 0.83509 [0.71831, 0.95186] : 0.20575
Incremental AUROC (full-covars): -0.00085
PGS R2 (no covariates): 0.00265
PGS AUROC (no covariates): 0.56328 [0.47919, 0.64736]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008975 PSS004314|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Type 2 diabetes AUROC: 0.69318 [0.65625, 0.73011] : 0.04603
Incremental AUROC (full-covars): 0.0115
PGS R2 (no covariates): 0.00675
PGS AUROC (no covariates): 0.58258 [0.54116, 0.62401]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008976 PSS004315|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Type 2 diabetes AUROC: 0.65806 [0.61856, 0.69756] Incremental AUROC (full-covars): 0.01243
: 0.0392
PGS R2 (no covariates): 0.00618
PGS AUROC (no covariates): 0.5613 [0.5184, 0.60421]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008977 PSS004316|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Type 2 diabetes AUROC: 0.68247 [0.66155, 0.70338] : 0.03772
Incremental AUROC (full-covars): 0.01405
PGS R2 (no covariates): 0.00633
PGS AUROC (no covariates): 0.57592 [0.55208, 0.59975]
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
PSS004316
[
  • 581 cases
  • , 66,844 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004312
[
  • 89 cases
  • , 6,408 controls
]
African unspecified UKB
PSS004313
[
  • 16 cases
  • , 1,688 controls
]
East Asian UKB
PSS004314
[
  • 180 cases
  • , 24,725 controls
]
European non-white British ancestry UKB
PSS004315
[
  • 171 cases
  • , 7,660 controls
]
South Asian UKB