Polygenic Score (PGS) ID: PGS004132

Predicted Trait
Reported Trait Type 1 diabetes (T1D)
Mapped Trait(s) type 1 diabetes mellitus (MONDO_0005147)
Released in PGS Catalog: Dec. 19, 2023
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Score Details

Score Construction
PGS Name pt_clump_nested.CV.GCST90013445.T1D
Development Method
Name pt_clump_nested.CV
Parameters p0.000001, r2 = 0.1, window = 250kb
Variants
Original Genome Build GRCh38
Number of Variants 354
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: 89.3%
African: 7.1%
Additional Diverse Ancestries: 3.6%
59,527 individuals (100%)
Score Development/Training
European: 100%
804 individuals (100%)
PGS Evaluation
European: 80%
South Asian: 20%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90013445
Europe PMC: 34127860
 53,130 individuals European NR
GWAS Catalog: GCST90013445
Europe PMC: 34127860
 2,148 individuals Other admixed ancestry NR
GWAS Catalog: GCST90013445
Europe PMC: 34127860
 4,249 individuals African unspecified 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
— 804 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
PPM019945 PSS011224|
European Ancestry|
199,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.53997
β: 0.43176		 AUROC: 0.62 — 0 beta = log(or)/sd_pgs
PPM019946 PSS011235|
European Ancestry|
322,349 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.83108
β: 0.6049		 AUROC: 0.67 — 0 beta = log(or)/sd_pgs
PPM019947 PSS011248|
South Asian Ancestry|
44,057 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.10378
β: 0.09874		 AUROC: 0.52 — 0 beta = log(or)/sd_pgs
PPM019948 PSS011264|
European Ancestry|
66,865 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.23285
β: 0.20933		 AUROC: 0.56 — 0 beta = log(or)/sd_pgs
PPM019949 PSS011277|
European Ancestry|
90,274 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: T1D OR: 1.87052
β: 0.62622		 AUROC: 0.67 — 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
PSS011277 — —
[
  • 201 cases
  • , 90,073 controls
]
 — European — UKB —
PSS011248 — —
[
  • 443 cases
  • , 43,614 controls
]
 — South Asian — G&H —
PSS011224 — —
[
  • 501 cases
  • , 198,773 controls
]
 — European — EB —
PSS011264 — —
[
  • 396 cases
  • , 66,469 controls
]
 — European — HUNT —
PSS011235 T1D, ICD10: E10, ICD9: 250[0|1]1 (exclude E11) —
[
  • 4,286 cases
  • , 318,063 controls
]
 — European — FinnGen —