Polygenic Score (PGS) ID: PGS004837

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: March 28, 2024
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Score Details

Score Construction
PGS Name t2d_PRSmix_eur
Development Method
Name PRSmix
Parameters power=0.95; p=0.05
Variants
Original Genome Build hg38
Number of Variants 3,306,136
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000604
Citation (link to publication) Truong B et al. Cell Genom (2024)
Ancestry Distribution
Score Development/Training
European: 100%
31,517 individuals (100%)
PGS Evaluation
Greater Middle Eastern: 66.7%
European: 33.3%
3 Sample Sets

Development Samples

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
31,517 individuals European AllofUs Meets any of the following case definitions: 1 (or more) diagnosis codes for Type 2 diabetes (T2D) AND 1 (or more) drug exposure for Type 2 diabetes medications EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes (T1D), OR 1 (or more) diagnosis codes AND 2 (or more) drug exposures for Type 1 diabetes and Type 2 diabetes medications with Type 2 diabetes drug exposure occurring ≥1 day before Type 1 diabetes drug exposure EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes, OR 2 (or more) diagnosis codes for Type 2 diabetes AND 1 (or more) drug exposure for Type 1 diabetes medication EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes OR 1 (or more) drug exposures for Type 2 diabetes medications AND 1 (or more) lab results EXCLUDE 1 (or more) diagnosis codes for Type 1 diabetes.

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
PPM021062 PSS011507|
European Ancestry|
7,879 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Type 2 diabetes Incremental R2 (Full model versus model with only covariates): 0.099 [0.087, 0.112] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM022871 PSS012080|
Greater Middle Eastern Ancestry|
4,534 individuals
PGP000753 |
Aliyu U et al. Diabetes Obes Metab (2025)
|Ext.
Reported Trait: Prediabetes OR: 1.306 [1.219, 1.399] AUROC: 0.654 [0.638, 0.669] : 0.092 sex, baseline age, BMI, PCs1-10
PPM022887 PSS012081|
Greater Middle Eastern Ancestry|
2,143 individuals
PGP000753 |
Aliyu U et al. Diabetes Obes Metab (2025)
|Ext.
Reported Trait: Incident T2D in prediabetics HR: 1.638 [1.402, 1.915] AUROC: 0.776 [0.745, 0.807] 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
PSS011507 7,879 individuals European AllofUs
PSS012080 age-matched cohort
[
  • 2,267 cases
  • , 2,267 controls
]
Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)
QBB
PSS012081 Median = 6.0 years
[
  • 199 cases
  • , 1,944 controls
]
,
54.22 % Male samples
Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)
QBB