| Publication Information (EuropePMC) | |
| Title | Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. |
| PubMed ID | 30586733(Europe PMC) |
| doi | 10.1161/circulationaha.118.035658 |
| Publication Date | March 1, 2019 |
| Journal | Circulation |
| Author(s) | Khera AV, Chaffin M, Zekavat SM, Collins RL, Roselli C, Natarajan P, Lichtman JH, D'Onofrio G, Mattera J, Dreyer R, Spertus JA, Taylor KD, Psaty BM, Rich SS, Post W, Gupta N, Gabriel S, Lander E, Ida Chen YD, Talkowski ME, Rotter JI, Krumholz HM, Kathiresan S. |
| Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000013 | GPS_CAD | PGP000006 Khera AV et al. Nat Genet (2018) |
Coronary artery disease | coronary artery disease | 6,630,150 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.txt.gz |
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 ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000399 | PGS000013 (GPS_CAD) | PSS000230 | PGP000060 Khera AV et al. (2019) Ext. |
Reported Trait: Early-onset mycardial infarction (age ≤55 years) | OR: 2.06[1.89, 2.25] | — | Odds Ratio (OR; top 5% vs. rest): 5.09[3.82, 6.78] | 4 genetic PCs | — |
| PPM000400 | PGS000013 (GPS_CAD) | PSS000228 | PGP000060 Khera AV et al. (2019) Ext. |
Reported Trait: Early-onset mycardial infarction (age ≤55 years) | OR: 1.46[1.28, 1.66] | — | Odds Ratio (OR; top 5% vs. rest): 2.02[1.29, 3.16] | 4 genetic PCs | — |
| PPM000401 | PGS000013 (GPS_CAD) | PSS000229 | PGP000060 Khera AV et al. (2019) Ext. |
Reported Trait: Early-onset mycardial infarction (age ≤55 years) | OR: 1.56[1.29, 1.88] | — | Odds Ratio (OR; top 5% vs. rest): 3.38[2.03, 5.64] | 4 genetic PCs | — |
| PPM000402 | PGS000013 (GPS_CAD) | PSS000227 | PGP000060 Khera AV et al. (2019) Ext. |
Reported Trait: Early-onset mycardial infarction (age ≤55 years) | OR: 2.16[1.35, 1.59] | — | Odds Ratio (OR; top 5% vs. rest): 3.33[0.82, 13.51] | 4 genetic PCs | — |
|
PGS Sample Set ID (PSS ID) |
Detailed Phenotype Description | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS000227 | — | — | [
|
— | Asian unspecified | — | MESA, VIRGO | Cases are from VIRGO, controls are from MESA |
| PSS000228 | — | — | [
|
— | African American or Afro-Caribbean | — | MESA, VIRGO | Cases are from VIRGO, controls are from MESA |
| PSS000229 | — | — | [
|
— | Hispanic or Latin American | — | MESA, VIRGO | Cases are from VIRGO, controls are from MESA |
| PSS000230 | — | — | [
|
— | European | — | MESA, VIRGO | Cases are from VIRGO, controls are from MESA |