Publication Information (EuropePMC) | |
Title | The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes. |
PubMed ID | 37148359(Europe PMC) |
doi | 10.1007/s00125-023-05912-9 |
Publication Date | May 6, 2023 |
Journal | Diabetologia |
Author(s) | Huerta-Chagoya A, Schroeder P, Mandla R, Deutsch AJ, Zhu W, Petty L, Yi X, Cole JB, Udler MS, Dornbos P, Porneala B, DiCorpo D, Liu CT, Li JH, Szczerbiński L, Kaur V, Kim J, Lu Y, Martin A, Eizirik DL, Marchetti P, Marselli L, Chen L, Srinivasan S, Todd J, Flannick J, Gubitosi-Klug R, Levitsky L, Shah R, Kelsey M, Burke B, Dabelea DM, Divers J, Marcovina S, Stalbow L, Loos RJF, Darst BF, Kooperberg C, Raffield LM, Haiman C, Sun Q, McCormick JB, Fisher-Hoch SP, Ordoñez ML, Meigs J, Baier LJ, González-Villalpando C, González-Villalpando ME, Orozco L, García-García L, Moreno-Estrada A, Mexican Biobank, Aguilar-Salinas CA, Tusié T, Dupuis J, Ng MCY, Manning A, Highland HM, Cnop M, Hanson R, Below J, Florez JC, Leong A, Mercader JM. |
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) |
---|---|---|---|---|---|---|
PGS003443 (PRScsx_T2D_LAT_EURweights) |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 1,092,496 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003443/ScoringFiles/PGS003443.txt.gz | |
PGS003444 (PRScsx_T2D_LAT_EASweights) |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 1,001,579 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003444/ScoringFiles/PGS003444.txt.gz | |
PGS003445 (PRScsx_T2D_LAT_LATweights) |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 1,149,210 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003445/ScoringFiles/PGS003445.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 |
---|---|---|---|---|---|---|---|---|---|
PPM017184 | PGS003445 (PRScsx_T2D_LAT_LATweights) |
PSS010157| Hispanic or Latin American Ancestry| 1,484 individuals |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Reported Trait: type 2 diabetes | OR: 1.9 [1.65, 2.19] | AUROC: 0.7475 | R²: 0.207 | sex, age, PCs(1-10), PRScsx_T2D_LAT_EURweights, PRScsx_T2D_LAT_EASweights | NOTE: Performance is based on a linear combination of this PGS with PRScsx_T2D_LAT_EASweights and PRScsx_T2D_LAT_LATweights (metascore=(zscoreEUR* 0.531117)+(zscoreEAS*0.5690198)+(zscoreLAT*0.1465538)). See score development details for how to apply |
PPM017182 | PGS003443 (PRScsx_T2D_LAT_EURweights) |
PSS010157| Hispanic or Latin American Ancestry| 1,484 individuals |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Reported Trait: type 2 diabetes | OR: 1.9 [1.65, 2.19] | AUROC: 0.7475 | R²: 0.207 | sex, age, PCs(1-10), PRScsx_T2D_LAT_EASweights, PRScsx_T2D_LAT_LATweights | NOTE: Performance is based on a linear combination of this PGS with PRScsx_T2D_LAT_EASweights and PRScsx_T2D_LAT_LATweights (metascore=(zscoreEUR* 0.531117)+(zscoreEAS*0.5690198)+(zscoreLAT*0.1465538)). See score development details for how to apply |
PPM017183 | PGS003444 (PRScsx_T2D_LAT_EASweights) |
PSS010157| Hispanic or Latin American Ancestry| 1,484 individuals |
PGP000445 | Huerta-Chagoya A et al. Diabetologia (2023) |
Reported Trait: type 2 diabetes | OR: 1.9 [1.65, 2.19] | AUROC: 0.7475 | R²: 0.207 | sex, age, PCs(1-10), PRScsx_T2D_LAT_EURweights, PRScsx_T2D_LAT_LATweights | NOTE: Performance is based on a linear combination of this PGS with PRScsx_T2D_LAT_EASweights and PRScsx_T2D_LAT_LATweights (metascore=(zscoreEUR* 0.531117)+(zscoreEAS*0.5690198)+(zscoreLAT*0.1465538)). See score development details for how to apply |
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 |
---|---|---|---|---|---|---|---|---|
PSS010157 | — | — | [
|
Mean = 42.3 years | Hispanic or Latin American (Mexican) |
— | METSB | — |