Trait: left ventricular ejection fraction measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0008373
Description quantification of the volumetric fraction of blood pumped out of the left ventricle
Trait category
Cardiovascular measurement
Mapped term PMID:28763429

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
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)
PGS001412
(GBE_INI22420)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 LV ejection fraction left ventricular ejection fraction measurement 266
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001412/ScoringFiles/PGS001412.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
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

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
PPM005316 PGS001412
(GBE_INI22420)
 PSS004987|
East Asian Ancestry|
110 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: LV ejection fraction — — R²: 0.21638 [0.18183, 0.25092]
Incremental R2 (full-covars): 0.00243
PGS R2 (no covariates): 0.0051 [-0.00163, 0.01183]		 age, sex, UKB array type, Genotype PCs —
PPM005317 PGS001412
(GBE_INI22420)
 PSS004988|
European Ancestry|
1,708 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: LV ejection fraction — — R²: 0.07182 [0.06564, 0.07799]
Incremental R2 (full-covars): 0.0014
PGS R2 (no covariates): 0.00189 [0.00081, 0.00297]		 age, sex, UKB array type, Genotype PCs —
PPM005315 PGS001412
(GBE_INI22420)
 PSS004986|
African Ancestry|
192 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: LV ejection fraction — — R²: 0.07902 [0.06643, 0.0916]
Incremental R2 (full-covars): 0.0065
PGS R2 (no covariates): 0.00921 [0.00459, 0.01383]		 age, sex, UKB array type, Genotype PCs —
PPM005318 PGS001412
(GBE_INI22420)
 PSS004989|
South Asian Ancestry|
319 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: LV ejection fraction — — R²: 0.06719 [0.05648, 0.07789]
Incremental R2 (full-covars): 0.00348
PGS R2 (no covariates): 0.00252 [0.00031, 0.00474]		 age, sex, UKB array type, Genotype PCs —
PPM005319 PGS001412
(GBE_INI22420)
 PSS004990|
European Ancestry|
5,528 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: LV ejection fraction — — R²: 0.04862 [0.04545, 0.05179]
Incremental R2 (full-covars): 0.00384
PGS R2 (no covariates): 0.00375 [0.00283, 0.00468]		 age, sex, UKB array type, Genotype PCs —
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 —
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 —
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] — —
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 —
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 —

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
PSS004988 — — 1,708 individuals — European non-white British ancestry UKB —
PSS004989 — — 319 individuals — South Asian — UKB —
PSS004990 — — 5,528 individuals — European white British ancestry UKB Testing cohort (heldout set)
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 —
PSS004986 — — 192 individuals — African unspecified — UKB —
PSS004987 — — 110 individuals — East Asian — UKB —