Polygenic Score (PGS) ID: PGS003091

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Additional Trait Information Diabetes diagnosed by doctor; Binary
Released in PGS Catalog: Nov. 23, 2022
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Score Details

Score Construction
PGS Name ExPRSweb_T2D_2443_PLINK_MGI_20211120
Development Method
Name PLINK
Parameters LD Clumping through Plink1.9 & P-value threshold <=3.98e-04
Variants
Original Genome Build GRCh37
Number of Variants 2,707
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000393
Citation (link to publication) Ma Y et al. Am J Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
360,192 individuals (100%)
Score Development/Training
European: 100%
21,281 individuals (100%)
PGS Evaluation
European: 50%
Greater Middle Eastern: 50%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 17,275 cases
  • , 342,917 controls
]
 European UKB
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
—
[
  • 4,959 cases
  • , 16,322 controls
]
 European MGI PheCode 250.2 (http://phewascatalog.org/); Binary — — — —

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
PPM015994 PSS010014|
European Ancestry|
21,356 individuals
 PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
 Reported Trait: Type 2 Diabetes OR: 1.379 [1.329, 1.431]
β: 0.321 (0.0189)		 AUROC: 0.591 [0.574, 0.606] — SEX,AGE,Batch,PC1,PC2,PC3,PC4 —
PPM022803 PSS012080|
Greater Middle Eastern Ancestry|
4,534 individuals
 PGP000753 |
Aliyu U et al. Diabetes Obes Metab (2025)
|Ext.		 Reported Trait: Prediabetes OR: 1.122 [1.055, 1.192] AUROC: 0.644 [0.628, 0.66] R²: 0.079 sex, baseline age, BMI, PCs1-10 —

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
PSS012080 age-matched cohort —
[
  • 2,267 cases
  • , 2,267 controls
]
 — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —
PSS010014 PheCode 250.2 (http://phewascatalog.org/); Binary —
[
  • 4,884 cases
  • , 16,472 controls
]
 — European — MGI —