Publication Information (EuropePMC) | |
Title | Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine. |
PubMed ID | 31322649(Europe PMC) |
doi | 10.1210/er.2019-00088 |
Publication Date | Dec. 1, 2019 |
Journal | Endocr Rev |
Author(s) | Udler MS, McCarthy MI, Florez JC, Mahajan A. |
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) |
---|---|---|---|---|---|---|
PGS000036 (gePS_T2D) |
PGP000023 | Mahajan A et al. Nat Genet (2018) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 171,249 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000036/ScoringFiles/PGS000036.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM000080 | PGS000036 (gePS_T2D) |
PSS000054| European Ancestry| 324,870 individuals |
PGP000024 | Udler MS et al. Endocr Rev (2019) |Ext. |
Reported Trait: Type 2 diabetes | — | AUROC: 0.66 | — | genotyping array, first 6 PCs of ancestry | — |
PPM000081 | PGS000036 (gePS_T2D) |
PSS000054| European Ancestry| 324,870 individuals |
PGP000024 | Udler MS et al. Endocr Rev (2019) |Ext. |
Reported Trait: Type 2 diabetes | — | AUROC: 0.73 | — | age, sex, genotyping array, first 6 PCs of ancestry | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000054 | Prevalent T2D status was defined using self-reported medical history and medication | — | [
|
— | European | — | UKB | — |