Polygenic Score (PGS) ID: PGS000023

Predicted Trait
Reported Trait Type 1 diabetes
Mapped Trait(s) type I diabetes mellitus (EFO_0001359)
Released in PGS Catalog: Oct. 14, 2019
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 AA_GRS
Variants
Original Genome Build NR
Number of Variants 7
Development Method
Name Genome-wide significant associations
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000013
Citation (link to publication) Onengut-Gumuscu S et al. Diabetes Care (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
African: 100%
3,949 individuals (100%)
PGS Evaluation
African: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
Europe PMC: 30659077
[
  • 59 cases
  • , 42 controls
]
,
40.59 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 0 cases
  • , 368 controls
]
,
28.5 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 41 cases
  • , 0 controls
]
,
41.5 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 0 cases
  • , 801 controls
]
,
21.6 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 255 cases
  • , 0 controls
]
,
43.9 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 666 cases
  • , 596 controls
]
,
35.66 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 0 cases
  • , 659 controls
]
,
26.7 % Male samples
African unspecified
Europe PMC: 30659077
[
  • 0 cases
  • , 462 controls
]
,
34.6 % Male samples
African unspecified

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
PPM000045 PSS000030|
African Ancestry|
3,949 individuals
PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
Reported Trait: Type 1 diabetes AUROC: 0.87 NOTE: Evaluated using cross-validation on training samples (20% heldout, 1000 iterations)
PPM000047 PSS000031|
African Ancestry|
145 individuals
PGP000013 |
Onengut-Gumuscu S et al. Diabetes Care (2019)
Reported Trait: Type 1 diabetes AUROC: 0.779

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
PSS000031 Cases are diagnosed with type 1 diabetes.
[
  • 61 cases
  • , 54 controls
]
African unspecified UOF
PSS000030
[
  • 1,021 cases
  • , 2,928 controls
]
African unspecified 7 cohorts
  • BDC
  • ,CLEAR
  • ,GoKinD
  • ,NYCP
  • ,SEARCH
  • ,T1DGC
  • ,UAB