PGS Publication: PGP000024

Publication Information (EuropePMC)
Title Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine.
PubMed ID 31322649(Europe PMC)
doi 10.1210/er.2019-00088
Publication Date Dec. 1, 2019
Journal Endocr Rev
Author(s) Udler MS, McCarthy MI, Florez JC, Mahajan A.
Released in PGS Catalog: Oct. 14, 2019

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000036
(gePS_T2D)
PGP000023 |
Mahajan A et al. Nat Genet (2018)
Type 2 diabetes type II diabetes mellitus 171,249
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000036/ScoringFiles/PGS000036.txt.gz

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)
Evaluated Score 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
PPM000080 PGS000036
(gePS_T2D)
PSS000054|
European Ancestry|
324,870 individuals
PGP000024 |
Udler MS et al. Endocr Rev (2019)
|Ext.
Reported Trait: Type 2 diabetes AUROC: 0.66 genotyping array, first 6 PCs of ancestry
PPM000081 PGS000036
(gePS_T2D)
PSS000054|
European Ancestry|
324,870 individuals
PGP000024 |
Udler MS et al. Endocr Rev (2019)
|Ext.
Reported Trait: Type 2 diabetes AUROC: 0.73 age, sex, genotyping array, first 6 PCs of ancestry

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
PSS000054 Prevalent T2D status was defined using self-reported medical history and medication
[
  • 13,480 cases
  • , 311,390 controls
]
European UKB