Trait: cor pulmonale

Trait Information
Identifier MONDO_0004596
Description Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. [MESH: D011660]
Trait category
Cardiovascular disease
Synonyms 8 synonyms
  • cardiopulmonary disease
  • cor pulmonale
  • disease, pulmonary heart
  • diseases, pulmonary heart
  • heart disease, pulmonary
  • heart diseases, pulmonary
  • pulmonary heart disease
  • pulmonary heart diseases
Mapped terms 7 mapped terms
  • DOID:8515
  • ICD10CM:I27.81
  • MEDGEN:18765
  • MESH:D011660
  • SCTID:274096000
  • UMLS:C0034072
  • icd11.foundation:738218522

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)
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
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

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
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 —
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 —

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
PSS007976 — — 1,805 individuals — East Asian China (East Asia) UKB —
PSS008414 — — 1,190 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007759 — — 2,457 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009312 — — 19,808 individuals — European UK (+ Ireland) UKB —
PSS009086 — — 4,113 individuals — European Poland (NE Europe) UKB —
PSS008863 — — 3,858 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008640 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS008194 — — 6,283 individuals — South Asian India (South Asia) UKB —