Polygenic Score (PGS) ID: PGS000022

Predicted Trait
Reported Trait Type 1 diabetes (T1D)
Mapped Trait(s) type 1 diabetes mellitus (MONDO_0005147)
Released in PGS Catalog: Oct. 14, 2019
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name T1D_GRS
Development Method
Name Genome-wide significant variants
Parameters Literature curated SNPs and HLA haplotypes. Based off of Oram et al. (2016; PMID:26577414) & Patel et al. (2016; PMID:27207547)
Variants
Original Genome Build NR
Number of Variants 37
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000012
Citation (link to publication) Perry DJ et al. Sci Rep (2018)
Ancestry Distribution
PGS Evaluation
African: 33.3%
Hispanic or Latin American: 33.3%
European: 33.3%
3 Sample Sets

Development Samples

No sample information available.

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
PPM000042 PSS000029|
European Ancestry|
1,447 individuals
PGP000012 |
Perry DJ et al. Sci Rep (2018)
Reported Trait: Type 1 diabetes AUROC: 0.8508 AUROCs are reported with respect to unrelated-control samples
PPM000043 PSS000028|
Hispanic or Latin American Ancestry|
252 individuals
PGP000012 |
Perry DJ et al. Sci Rep (2018)
Reported Trait: Type 1 diabetes AUROC: 0.9003 AUROCs are reported with respect to unrelated-control samples
PPM000044 PSS000027|
African Ancestry|
299 individuals
PGP000012 |
Perry DJ et al. Sci Rep (2018)
Reported Trait: Type 1 diabetes AUROC: 0.7522 AUROCs are reported with respect to unrelated-control samples

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
PSS000027 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 84 cases
  • , 63 controls
]
,
33.78 % Male samples
African American or Afro-Caribbean UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000028 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 65 cases
  • , 43 controls
]
,
44.84 % Male samples
Hispanic or Latin American Samples labeled Caucasian (Hispanic ethnicity) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.
PSS000029 Type 1 diabetes status was assigned according to clinician diagnosis.
[
  • 478 cases
  • , 290 controls
]
,
47.34 % Male samples
European Samples labeled Caucasian (non-Hispanic) in the original publication. UFDI Total sample number contains the number of controls, cases, and includes the number of first/second-degree relatives and samples identified as "at risk" (autoantibody positive) used in other analyses.