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(Variants and weights)

Polygenic Score (PGS) ID: PGS000022

Predicted Trait

Reported Trait: Type 1 diabetes
Mapped Trait(s) (Experimental Factor Ontology (EFO) IDs): type I diabetes mellitus

Score Details

Name: T1D_GRS

Original Genome Build: NR
Number of Variants: 37

PGS Development Method: Genome-wide significant variants
PGS Development Details/Relevant Parameters: Literature curated SNPs and HLA haplotypes. Based off of Oram et al. (2016; PMID:26577414) & Patel et al. (2016; PMID:27207547)

Citation: Perry DJ et al. Sci Rep (2018) | PGS Catalog Publication ID: PGP000012

Contributing 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 (PPM) ID PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000042 PSS000029 Perry DJ et al. (2018) Reported Trait: Type 1 diabetes AUROC: 0.8508 AUROCs are reported with respect to unrelated-control samples
PPM000043 PSS000028 Perry DJ et al. (2018) Reported Trait: Type 1 diabetes AUROC: 0.9003 AUROCs are reported with respect to unrelated-control samples
PPM000044 PSS000027 Perry DJ et al. (2018) Reported Trait: Type 1 diabetes AUROC: 0.7522 AUROCs are reported with respect to unrelated-control samples

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000027 Type 1 diabetes status was assigned according to clinician diagnosis. 299 individuals
[ 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. 252 individuals
[ 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. 1,447 individuals
[ 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.