Polygenic Score (PGS) ID: PGS000833

Predicted Trait
Reported Trait Type 1 diabetes (T1D)
Mapped Trait(s) type 1 diabetes mellitus (MONDO_0005147)
Released in PGS Catalog: Nov. 4, 2021
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Score Details

Score Construction
PGS Name T1D
Development Method
Name Genome-wide significant variants
Parameters r2=0.1, 250kb window
Variants
Original Genome Build GRCh37
Number of Variants 66
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000211
Citation (link to publication) Aly DM et al. Nat Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
29,652 individuals (100%)
PGS Evaluation
European: 100%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST005536
Europe PMC: 25751624
 29,652 individuals European B58C, CBR, T1DGC, UKBS

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
PPM002243 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 1.39 [1.25, 1.54] — — PC1-10 —
PPM002246 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 1.04 [0.97, 1.11] — — PC1-10 —
PPM002247 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 1.02 [0.97, 1.07] — — PC1-10 —
PPM002244 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.01 [0.94, 1.08] — — PC1-10 —
PPM002245 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.03 [0.96, 1.11] — — PC1-10 —

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
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls —
[
  • 2,853 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls —
[
  • 1,372 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls —
[
  • 450 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls —
[
  • 1,186 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls —
[
  • 1,125 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —