PGS Publication: PGP000014

Publication Information (EuropePMC)
Title Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
PubMed ID 30655379(Europe PMC)
doi 10.2337/dc18-1785
Publication Date Feb. 1, 2019
Journal Diabetes Care
Author(s) Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA.
Released in PGS Catalog: Oct. 14, 2019

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000024
(GRS2)
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 85
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000024/ScoringFiles/PGS000024.txt.gz

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000021
(GRS1)
 PGP000011 |
Oram RA et al. Diabetes Care (2015)
 Type 1 diabetes (T1D) type 1 diabetes mellitus 33
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000021/ScoringFiles/PGS000021.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
PPM000048 PGS000024
(GRS2)
 PSS000032|
European Ancestry|
374,000 individuals
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
 Reported Trait: Type 1 diabetes — AUROC: 0.921 Youden index: 0.698 — —
PPM000049 PGS000021
(GRS1)
 PSS000032|
European Ancestry|
374,000 individuals
 PGP000014 |
Sharp SA et al. Diabetes Care (2019)
|Ext.		 Reported Trait: Type 1 diabetes — AUROC: 0.893 — — —

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
PSS000032 Type 1 Diabetes Case Definition = Clinical diagnosis of diabetes at less than or equal to 20 years of age; On insulin within 1 year from the time of diagnosis; Still on insulin at the time of recruit- ment; Not using oral antihyperglycemic agents; Did not ever self-report as having type 2 diabetes (T2D) —
[
  • 387 cases
  • , 373,613 controls
]
 — European — UKB —