PGS Publication: PGP000012

Publication Information (EuropePMC)
Title Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling.
PubMed ID 29540798(Europe PMC)
doi 10.1038/s41598-018-22574-5
Publication Date March 14, 2018
Journal Sci Rep
Author(s) Perry DJ, Wasserfall CH, Oram RA, Williams MD, Posgai A, Muir AB, Haller MJ, Schatz DA, Wallet MA, Mathews CE, Atkinson MA, Brusko TM.
Released in PGS Catalog: Oct. 14, 2019

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Multi-ancestry (excluding European)
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000022
(T1D_GRS)
PGP000012 |
Perry DJ et al. Sci Rep (2018)
Type 1 diabetes type I diabetes mellitus 37
-
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000022/ScoringFiles/PGS000022.txt.gz

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)
Evaluated Score 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 PGS000022
(T1D_GRS)
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 PGS000022
(T1D_GRS)
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 PGS000022
(T1D_GRS)
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.