Publication Information (EuropePMC) | |
Title | Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases |
PubMed ID | 34750571(Europe PMC) |
doi | 10.1038/s42255-021-00478-5 |
Publication Date | Nov. 8, 2021 |
Journal | Nat Metab |
Author(s) | Ritchie SC, Lambert SA, Arnold M, Teo SM, Lim S, Scepanovic P, Marten J, Zahid S, Chaffin M, Liu Y, Abraham G, Ouwehand WH, Roberts DJ, Watkins NA, Drew BG, Calkin A, Di Angelantonio E, Soranzo N, Burgess S, Chapman M, Kathiresan S, Khera AV, Danesh J, Butterworth AS, Inouye M. |
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) |
---|---|---|---|---|---|---|
PGS000729 (T2D_PGS) |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 2,017,388 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000729/ScoringFiles/PGS000729.txt.gz |
PGS000727 (AF_PGS) |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Atrial fibrillation | atrial fibrillation | 2,210,336 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000727/ScoringFiles/PGS000727.txt.gz |
PGS000728 (CKD_PGS) |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Chronic kidney disease | chronic kidney disease | 1,958,860 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000728/ScoringFiles/PGS000728.txt.gz |
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) |
---|---|---|---|---|---|---|
PGS000018 (metaGRS_CAD) |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |
Coronary artery disease | coronary artery disease | 1,745,179 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000018/ScoringFiles/PGS000018.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 |
---|---|---|---|---|---|---|---|---|---|
PPM001666 | PGS000018 (metaGRS_CAD) |
PSS000868| European Ancestry| 3,087 individuals |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |Ext. |
Reported Trait: Incident myocardial infarction | HR: 2.89 [1.66, 5.04] | — | — | age, sex, 10 genetic PCs | — |
PPM001667 | PGS000729 (T2D_PGS) |
PSS000869| European Ancestry| 3,087 individuals |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Reported Trait: Incident type 2 diabetes | HR: 2.0 [1.36, 2.94] | — | — | age, sex, 10 genetic PCs | — |
PPM001668 | PGS000727 (AF_PGS) |
PSS000867| European Ancestry| 3,087 individuals |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Reported Trait: Incident atrial fibrillation | HR: 1.72 [1.2, 2.47] | — | — | age, sex, 10 genetic PCs | — |
PPM001669 | PGS000728 (CKD_PGS) |
PSS000870| European Ancestry| 3,037 individuals |
PGP000137 | Ritchie SC et al. Nat Metab (2021) |
Reported Trait: Estimated Glomerular Filtration Rate (eGFR) | β: -0.9 [-1.45, -0.36] | — | — | age, sex, 10 genetic PCs | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000870 | Serum creatinine was quantified by Metabolon HD4 metabolomics in mg/dL units, and adjusted for sample measurement batch, sample measurement plate, and days between blood draw and sample processing. Subsequently, eGFR was quantified from serum creatinine using the CKD-EPI equation | — | 3,037 individuals, 51.0 % Male samples |
Median = 44.0 years IQR = [30.5, 54.7] years |
European | — | INTERVAL | — |
PSS000867 | CALIBER rule-based phenotyping algorithms (https://www.caliberresearch.org/portal). ICD-10: I48 | Median = 6.9 years | [ ,
51.0 % Male samples |
Median = 44.0 years IQR = [30.5, 54.7] years |
European | — | INTERVAL | — |
PSS000868 | CALIBER rule-based phenotyping algorithms (https://www.caliberresearch.org/portal). ICD-10: I21-I23, I24.1, I25.2 | Median = 6.9 years | [ ,
51.0 % Male samples |
Median = 44.0 years IQR = [30.5, 54.7] years |
European | — | INTERVAL | — |
PSS000869 | CALIBER rule-based phenotyping algorithms (https://github.com/spiros/chronological-map-phenotypes#diabetes) | Median = 6.9 years | [ ,
51.0 % Male samples |
Median = 44.0 years IQR = [30.5, 54.7] years |
European | — | INTERVAL | — |