PGS Publication: PGP000060

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.
Released in PGS Catalog: March 27, 2020

Associated Polygenic Score(s)

External PGS Evaluated By This Publication

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 - Check Terms/Licenses

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 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
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 —
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 —
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 —
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 —

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		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
PSS000227 — —
[
  • 40 cases
  • , 504 controls
]
 — Asian unspecified — MESA, VIRGO Cases are from VIRGO, controls are from MESA
PSS000228 — —
[
  • 336 cases
  • , 962 controls
]
 — African American or Afro-Caribbean — MESA, VIRGO Cases are from VIRGO, controls are from MESA
PSS000229 — —
[
  • 168 cases
  • , 751 controls
]
 — Hispanic or Latin American — MESA, VIRGO Cases are from VIRGO, controls are from MESA
PSS000230 — —
[
  • 1,537 cases
  • , 1,544 controls
]
 — European — MESA, VIRGO Cases are from VIRGO, controls are from MESA