| Predicted Trait | |
| Reported Trait | Reduced left ventricular ejection fraction |
| Mapped Trait(s) | left ventricular ejection fraction measurement (EFO_0008373) |
| Score Construction | |
| PGS Name | GRS22_rLVEF |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | p<5E-08, r2<0.05 |
| Variants | |
| Original Genome Build | GRCh38 |
| Number of Variants | 22 |
| 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) | European: 98.2% South Asian: 0.8% Not Reported: 0.4% African: 0.3% East Asian: 0.3% 36,041 individuals (100%) |
| PGS Evaluation | |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST010125 Europe PMC: 32382064 |
35,407 individuals | European | UKB |
GWAS Catalog: GCST010125 Europe PMC: 32382064 |
95 individuals | African unspecified | UKB |
GWAS Catalog: GCST010125 Europe PMC: 32382064 |
108 individuals | East Asian | UKB |
GWAS Catalog: GCST010125 Europe PMC: 32382064 |
303 individuals | South Asian | UKB |
GWAS Catalog: GCST010125 Europe PMC: 32382064 |
128 individuals | Not reported | UKB |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM012953 | 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 | 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 | — |
|
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 | — |