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)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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

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)
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
PPM000402 PGS000013
(GPS_CAD)
PSS000227|
Additional Asian Ancestries|
544 individuals
PGP000060 |
Khera AV et al. Circulation (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|
Hispanic or Latin American Ancestry|
919 individuals
PGP000060 |
Khera AV et al. Circulation (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|
African Ancestry|
1,298 individuals
PGP000060 |
Khera AV et al. Circulation (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|
European Ancestry|
3,081 individuals
PGP000060 |
Khera AV et al. Circulation (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)
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