Polygenic Score (PGS) ID: PGS002278

Predicted Trait
Reported Trait Supranormal left ventricular ejection fraction
Mapped Trait(s) left ventricular ejection fraction measurement (EFO_0008373)
Released in PGS Catalog: April 13, 2022
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Score Details

Score Construction
PGS Name GRS16_snLVEF
Development Method
Name Genome-wide significant variants
Parameters p<5E-08, r2<0.05
Variants
Original Genome Build GRCh38
Number of Variants 16
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000307
Citation (link to publication) Forrest IS et al. Eur J Heart Fail (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • African
  • Hispanic or Latin American
  • European
  • Additional Asian Ancestries
  • Not Reported
30,557 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • African
  • Hispanic or Latin American
  • European
  • Additional Asian Ancestries
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 35278270
[
  • 7,548 cases
  • , 23,009 controls
]
African unspecified, Hispanic or Latin American, European, Asian unspecified, NR BioMe, UKB

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)
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
PPM012952 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: All-cause mortality HR (top 10% vs bottom 10%): 1.11 [1.04, 1.18] Age, sex, body mass index (BMI; except for obesity),10 principal components of ancestry
PPM012954 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: All-cause mortality (with heart failure) HR (top 10% vs bottom 10%): 1.26 [1.05, 1.5] Age, sex, body mass index (BMI; except for obesity),10 principal components of ancestry
PPM012956 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: All-cause mortality (without heart failure) HR (top 10% vs bottom 10%): 1.09 [1.02, 1.17] Age, sex, body mass index (BMI; except for obesity),10 principal components of ancestry
PPM012957 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Heart failure diagnosis OR: 0.97 [0.95, 0.99] Age, sex, body mass index,10 principal components of ancestry
PPM012958 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Brain natriuretic peptide level Median (top 10% vs bottom 10%): 146.0 [79, 228] pg/ml
PPM012959 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Prevalence of dyspnoea OR (top 10% vs bottom 10%): 1.17 [1.01, 1.37]
PPM012960 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Exertional dyspnoea OR (top 10% vs bottom 10%): 1.39 [1.12, 1.74]
PPM012961 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Peperipheral oedema OR (top 10% vs bottom 10%): 1.07 [1.01, 1.13]
PPM012962 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Medication for heart failure (loop diuretics) OR (top 10% vs bottom 10%): 1.03 [1.01, 1.05]
PPM012963 PSS009631|
Multi-ancestry (including European)|
486,754 individuals
PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
Reported Trait: Medication for heart failure (mineralocorticoid receptor antagonists) OR (top 10% vs bottom 10%): 1.04 [1.01, 1.09]

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
PSS009631 ICD-10 diagnosis code for hypertensive heart disease with heart failure, hypertensive heart and chronic kidney disease with heart failure and stage 1 through stage 4 chronic kidney disease, hypertensive heart and chronic kidney disease with heart failure and with stage 5 chronic kidney disease, or heart failure (I11.0, I13.0, I13.2, I50) in BioMe biobank and ICD-10 diagnosis code for hypertensive heart disease with heart failure, hypertensive heart and chronic kidney disease with heart failure and stage 1 through stage 4 chronic kidney disease, hypertensive heart and chronic kidney disease with heart failure and with stage 5 chronic kidney disease, or heart failure (I11.0, I13.0, I13.2, I50) in UKB; ICD-10 diagnosis code for exertional dyspnea (R06.09) and/or physician-documented exertional dyspnea in the problem list; ICD-10 diagnosis code for peripheral edema (R60) and/or physician-documented peripheral edema in the problem list (e.g., “ankle swelling”, “lower extremity swelling”); (e.g., “shortness of breath”, “difficulty breathing”; and “on exertion”, “when exercising”); ICD-10 diagnosis code for dyspnea (R06.0) and/or physician-documented dyspnea in the problem list (e.g., “shortness of breath”, “trouble breathing”) 486,754 individuals,
46.0 % Male samples
Median = 58.0 years African unspecified, Hispanic or Latin American, European, Asian unspecified, NR African, Hispanic/Latino, European, Asian, Other ancestry BioMe, UKB