Publication: Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.


PGS Catalog Publication (PGP) ID: PGP000014
PubMed ID: 30655379
doi: 10.2337/dc18-1785

Publication Date: Feb. 1, 2019

Journal: Diabetes Care

Authors: Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA.

PGS Associated with PGP000014

PGS Developed By This Study

External PGS Evaluated By This Study

PGS 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 Evaluated Score 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
PPM000048 PGS000024 (GRS2) PSS000032 Sharp SA et al. (2019) Reported Trait: Type 1 diabetes AUROC: 0.921 Youden index: 0.698
PPM000049 PGS000021 (GRS1) PSS000032 Sharp SA et al. (2019) Ext. Reported Trait: Type 1 diabetes AUROC: 0.893

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
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) 374,000 individuals
[ 387 cases, 373,613 controls]
European UKB