Trait: heart failure

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003144
Description Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. [EFO: 0003144]
Trait category
Cardiovascular disease
Synonyms 12 synonyms
  • Heart failure (disorder)
  • Heart failure NOS
  • Heart failure NOS (disorder)
  • Heart failure, unspecified
  • Heart: [weak] or [failure NOS]
  • Weak heart
  • cardiac dysfunction
  • cardiac failure
  • cardiac insufficiency
  • failure, heart
  • heart failure
  • insufficiency, Cardiac
Mapped terms 16 mapped terms
  • ICD10:I50
  • ICD9:428
  • ICD9:428.9
  • MESH:D006333
  • MONDO:0005252
  • MeSH:D006333
  • MedDRA:10007554
  • MedDRA:10007564
  • MedDRA:10019279
  • MedDRA:10019284
  • MedDRA:10019285
  • NCIT:C50577
  • NCIt:C50577
  • SCTID:84114007
  • SNOMEDCT:84114007
  • UMLS:CN236639
Child trait(s) 2 child traits

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
Note: This table shows all PGS for "heart failure" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000709
(HC299)
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Heart failure heart failure 183,287
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000709/ScoringFiles/PGS000709.txt.gz - Check Terms/Licenses
PGS001790
(1kgeur_gbmi_leaveUKBBout_HF_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Heart Failure heart failure 910,146
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001790/ScoringFiles/PGS001790.txt.gz
PGS001840
(portability-PLR_415)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Pulmonary heart disease cor pulmonale 330
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001840/ScoringFiles/PGS001840.txt.gz
PGS001842
(portability-PLR_428)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congestive heart failure; nonhypertensive congestive heart failure 2,759
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001842/ScoringFiles/PGS001842.txt.gz
PGS002049
(portability-ldpred2_415)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Pulmonary heart disease cor pulmonale 222,371
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002049/ScoringFiles/PGS002049.txt.gz
PGS002051
(portability-ldpred2_428)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congestive heart failure; nonhypertensive congestive heart failure 642,241
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002051/ScoringFiles/PGS002051.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
PPM001601 PGS000709
(HC299)
 PSS000820|
European Ancestry|
87,413 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Heart failure — AUROC: 0.53217 — Age, sex, PCs(1-10) —
PPM001614 PGS000709
(HC299)
 PSS000821|
European Ancestry|
135,300 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Heart failure HR: 1.08 [1.06, 1.1] C-index: 0.635 — Age as time scale, sex, batch, PCs(1-10) —
PPM009294 PGS001790
(1kgeur_gbmi_leaveUKBBout_HF_pst_eff_a1_b0.5_phiauto)
 PSS007713|
European Ancestry|
358,905 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Heart Failure — AUROC: 0.75 Nagelkerke's R2 (covariates regressed out): 0.00698 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009610 PGS001840
(portability-PLR_415)
 PSS009312|
European Ancestry|
19,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0355 [0.0216, 0.0494] sex, age, birth date, deprivation index, 16 PCs —
PPM009611 PGS001840
(portability-PLR_415)
 PSS009086|
European Ancestry|
4,113 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0647 [0.0341, 0.0952] sex, age, birth date, deprivation index, 16 PCs —
PPM009612 PGS001840
(portability-PLR_415)
 PSS008640|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.038 [0.0139, 0.0621] sex, age, birth date, deprivation index, 16 PCs —
PPM009613 PGS001840
(portability-PLR_415)
 PSS008414|
Greater Middle Eastern Ancestry|
1,190 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): -0.0071 [-0.0643, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM009614 PGS001840
(portability-PLR_415)
 PSS008194|
South Asian Ancestry|
6,283 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.03 [0.0052, 0.0547] sex, age, birth date, deprivation index, 16 PCs —
PPM009615 PGS001840
(portability-PLR_415)
 PSS007976|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0109 [-0.0355, 0.0572] sex, age, birth date, deprivation index, 16 PCs —
PPM009616 PGS001840
(portability-PLR_415)
 PSS007759|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0171 [-0.0226, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM009617 PGS001840
(portability-PLR_415)
 PSS008863|
African Ancestry|
3,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0366 [0.005, 0.0682] sex, age, birth date, deprivation index, 16 PCs —
PPM009626 PGS001842
(portability-PLR_428)
 PSS009314|
European Ancestry|
19,961 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0293 [0.0154, 0.0432] sex, age, birth date, deprivation index, 16 PCs —
PPM009627 PGS001842
(portability-PLR_428)
 PSS009088|
European Ancestry|
4,128 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0213 [-0.0093, 0.0519] sex, age, birth date, deprivation index, 16 PCs —
PPM009628 PGS001842
(portability-PLR_428)
 PSS008642|
European Ancestry|
6,648 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0227 [-0.0014, 0.0467] sex, age, birth date, deprivation index, 16 PCs —
PPM009629 PGS001842
(portability-PLR_428)
 PSS008416|
Greater Middle Eastern Ancestry|
1,197 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0369 [-0.0203, 0.0938] sex, age, birth date, deprivation index, 16 PCs —
PPM009631 PGS001842
(portability-PLR_428)
 PSS007978|
East Asian Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0692 [0.023, 0.1152] sex, age, birth date, deprivation index, 16 PCs —
PPM009632 PGS001842
(portability-PLR_428)
 PSS007761|
African Ancestry|
2,472 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0218 [-0.0178, 0.0613] sex, age, birth date, deprivation index, 16 PCs —
PPM009633 PGS001842
(portability-PLR_428)
 PSS008865|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): -0.0133 [-0.0447, 0.0182] sex, age, birth date, deprivation index, 16 PCs —
PPM009630 PGS001842
(portability-PLR_428)
 PSS008196|
South Asian Ancestry|
6,294 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0004 [-0.0244, 0.0251] sex, age, birth date, deprivation index, 16 PCs —
PPM011254 PGS002049
(portability-ldpred2_415)
 PSS009312|
European Ancestry|
19,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0397 [0.0258, 0.0536] sex, age, birth date, deprivation index, 16 PCs —
PPM011255 PGS002049
(portability-ldpred2_415)
 PSS009086|
European Ancestry|
4,113 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0663 [0.0357, 0.0967] sex, age, birth date, deprivation index, 16 PCs —
PPM011256 PGS002049
(portability-ldpred2_415)
 PSS008640|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0336 [0.0095, 0.0577] sex, age, birth date, deprivation index, 16 PCs —
PPM011257 PGS002049
(portability-ldpred2_415)
 PSS008414|
Greater Middle Eastern Ancestry|
1,190 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): -0.0019 [-0.0592, 0.0554] sex, age, birth date, deprivation index, 16 PCs —
PPM011258 PGS002049
(portability-ldpred2_415)
 PSS008194|
South Asian Ancestry|
6,283 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0331 [0.0083, 0.0578] sex, age, birth date, deprivation index, 16 PCs —
PPM011259 PGS002049
(portability-ldpred2_415)
 PSS007976|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0075 [-0.0389, 0.0539] sex, age, birth date, deprivation index, 16 PCs —
PPM011260 PGS002049
(portability-ldpred2_415)
 PSS007759|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.014 [-0.0257, 0.0537] sex, age, birth date, deprivation index, 16 PCs —
PPM011261 PGS002049
(portability-ldpred2_415)
 PSS008863|
African Ancestry|
3,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0322 sex, age, birth date, deprivation index, 16 PCs —
PPM011270 PGS002051
(portability-ldpred2_428)
 PSS009314|
European Ancestry|
19,961 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0235 [0.0097, 0.0374] sex, age, birth date, deprivation index, 16 PCs —
PPM011271 PGS002051
(portability-ldpred2_428)
 PSS009088|
European Ancestry|
4,128 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0368 [0.0062, 0.0673] sex, age, birth date, deprivation index, 16 PCs —
PPM011272 PGS002051
(portability-ldpred2_428)
 PSS008642|
European Ancestry|
6,648 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0327 [0.0086, 0.0567] sex, age, birth date, deprivation index, 16 PCs —
PPM011274 PGS002051
(portability-ldpred2_428)
 PSS008196|
South Asian Ancestry|
6,294 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0021 [-0.0226, 0.0269] sex, age, birth date, deprivation index, 16 PCs —
PPM011275 PGS002051
(portability-ldpred2_428)
 PSS007978|
East Asian Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0376 [-0.0087, 0.0838] sex, age, birth date, deprivation index, 16 PCs —
PPM011276 PGS002051
(portability-ldpred2_428)
 PSS007761|
African Ancestry|
2,472 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.025 [-0.0146, 0.0645] sex, age, birth date, deprivation index, 16 PCs —
PPM011277 PGS002051
(portability-ldpred2_428)
 PSS008865|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): 0.0121 [-0.0193, 0.0436] sex, age, birth date, deprivation index, 16 PCs —
PPM011273 PGS002051
(portability-ldpred2_428)
 PSS008416|
Greater Middle Eastern Ancestry|
1,197 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congestive heart failure; nonhypertensive — — Partial Correlation (partial-r): -0.0001 [-0.0572, 0.0571] sex, age, birth date, deprivation index, 16 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
PSS007759 — — 2,457 individuals — African American or Afro-Caribbean Carribean UKB —
PSS000820 — — 87,413 individuals — European — UKB —
PSS000821 ICD-10 I50, I11.0, I13.0 —
[
  • 13,965 cases
  • , 121,335 controls
]
 — European
(Finnish)		 — FinnGen —
PSS007761 — — 2,472 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008414 — — 1,190 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008416 — — 1,197 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009312 — — 19,808 individuals — European UK (+ Ireland) UKB —
PSS009314 — — 19,961 individuals — European UK (+ Ireland) UKB —
PSS009086 — — 4,113 individuals — European Poland (NE Europe) UKB —
PSS009088 — — 4,128 individuals — European Poland (NE Europe) UKB —
PSS008194 — — 6,283 individuals — South Asian India (South Asia) UKB —
PSS008196 — — 6,294 individuals — South Asian India (South Asia) UKB —
PSS007713 — —
[
  • 6,285 cases
  • , 352,619 controls
]
 — European — UKB —
PSS008863 — — 3,858 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008865 — — 3,905 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007976 — — 1,805 individuals — East Asian China (East Asia) UKB —
PSS007978 — — 1,808 individuals — East Asian China (East Asia) UKB —
PSS008640 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS008642 — — 6,648 individuals — European Italy (South Europe) UKB —