Polygenic Score (PGS) ID: PGS004024

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: Dec. 19, 2023
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Score Details

Score Construction
PGS Name ldpred2.auto.GCST004773.T2D
Development Method
Name LDpred2-auto
Parameters auto
Variants
Original Genome Build GRCh38
Number of Variants 958,046
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000517
Citation (link to publication) Monti R et al. Am J Hum Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
159,208 individuals (100%)
Score Development/Training
European: 100%
23,748 individuals (100%)
PGS Evaluation
European: 66.7%
South Asian: 33.3%
6 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004773
Europe PMC: 28566273
159,208 individuals European NR
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
23,748 individuals European 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
PPM019329 PSS011225|
European Ancestry|
199,274 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.48498
β: 0.3954
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019330 PSS011236|
European Ancestry|
377,408 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.50219
β: 0.40693
AUROC: 0.61 0 beta = log(or)/sd_pgs
PPM019331 PSS011249|
South Asian Ancestry|
44,057 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.2876
β: 0.25278
AUROC: 0.57 0 beta = log(or)/sd_pgs
PPM019332 PSS011265|
European Ancestry|
66,865 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.53513
β: 0.42861
AUROC: 0.62 0 beta = log(or)/sd_pgs
PPM019333 PSS011291|
South Asian Ancestry|
9,326 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.39993
β: 0.33642
AUROC: 0.59 0 beta = log(or)/sd_pgs
PPM019334 PSS011278|
European Ancestry|
90,274 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Type 2 Diabetes OR: 1.608
β: 0.47499
AUROC: 0.63 0 beta = log(or)/sd_pgs

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
PSS011278
[
  • 5,937 cases
  • , 84,337 controls
]
European UKB
PSS011249
[
  • 6,630 cases
  • , 37,427 controls
]
South Asian G&H
PSS011225
[
  • 12,344 cases
  • , 186,930 controls
]
European EB
PSS011291
[
  • 2,066 cases
  • , 7,260 controls
]
South Asian UKB
PSS011265
[
  • 3,861 cases
  • , 63,004 controls
]
European HUNT
PSS011236 T2D, ICD10: E11, ICD9: 250[0|1]0 (exclude E10)
[
  • 59,345 cases
  • , 318,063 controls
]
European FinnGen