PGS Publication: PGP000307

Publication Information (EuropePMC)
Title Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure.
PubMed ID 35278270(Europe PMC)
doi 10.1002/ejhf.2482
Publication Date March 12, 2022
Journal Eur J Heart Fail
Author(s) Forrest IS, Rocheleau G, Bafna S, Argulian E, Narula J, Natarajan P, Do R.
Released in PGS Catalog: April 13, 2022

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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)
PGS002279
(GRS22_rLVEF)
 PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
 Reduced left ventricular ejection fraction left ventricular ejection fraction measurement 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002279/ScoringFiles/PGS002279.txt.gz
PGS002278
(GRS16_snLVEF)
 PGP000307 |
Forrest IS et al. Eur J Heart Fail (2022)
 Supranormal left ventricular ejection fraction left ventricular ejection fraction measurement 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002278/ScoringFiles/PGS002278.txt.gz

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
PPM012952 PGS002278
(GRS16_snLVEF)
 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 —
PPM012953 PGS002279
(GRS22_rLVEF)
 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%): 1.1 [1.02, 1.12] Age, sex, body mass index (BMI; except for obesity),10 principal components of ancestry —
PPM012954 PGS002278
(GRS16_snLVEF)
 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 —
PPM012955 PGS002279
(GRS22_rLVEF)
 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%): 1.31 [1.09, 1.58] Age, sex, body mass index (BMI; except for obesity),10 principal components of ancestry —
PPM012956 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 PGS002278
(GRS16_snLVEF)
 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 —