Trait: pulmonary embolism

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003827
Description The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. [NCIT: P378]
Trait category
Cardiovascular disease
Synonyms 19 synonyms
  • EMBOLISM PULM
  • EMBOLISMS PULM
  • Embolism, Pulmonary
  • Embolisms, Pulmonary
  • PULM EMBOLISM
  • PULM EMBOLISMS
  • PULM THROMBOEMBOLISM
  • PULM THROMBOEMBOLISMS
  • Pulmonary Embolisms
  • Pulmonary Thromboembolism
  • Pulmonary Thromboembolisms
  • THROMBOEMBOLISMS PULM
  • Thromboembolism, Pulmonary
  • Thromboembolisms, Pulmonary
  • embolism, pulmonary
  • pulmonary artery embolism
  • pulmonary embolism
  • pulmonary embolism (disease)
  • pulmonary embolus
Mapped terms 14 mapped terms
  • DOID:9477
  • HP:0002204
  • ICD10:I26
  • ICD10:I26.99
  • ICD9:415.19
  • MESH:D011655
  • MONDO:0005279
  • MeSH:D011655
  • MedDRA:10037377
  • NCIT:C50713
  • NCIt:C50713
  • SCTID:59282003
  • SNOMEDCT:59282003
  • UMLS:C0034065

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 Scoring File (FTP Link)
PGS001277
(GBE_HC203)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
PE +/- DVT pulmonary embolism,
deep vein thrombosis
96
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001277/ScoringFiles/PGS001277.txt.gz
PGS001278
(GBE_BIN_FC12006152)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
previously: Blood clot in the leg (DVT) or lung pulmonary embolism,
deep vein thrombosis
551
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001278/ScoringFiles/PGS001278.txt.gz
PGS001279
(GBE_BIN_FC8006152)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
previously: Blood clot in the lung pulmonary embolism,
deep vein thrombosis
94
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001279/ScoringFiles/PGS001279.txt.gz
PGS001280
(GBE_HC943)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
PE (time-to-event) pulmonary embolism 88
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001280/ScoringFiles/PGS001280.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
PPM008883 PGS001277
(GBE_HC203)
PSS004344|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: PE +/- DVT AUROC: 0.65081 [0.59936, 0.70226] : 0.03099
Incremental AUROC (full-covars): 0.01
PGS R2 (no covariates): 0.00418
PGS AUROC (no covariates): 0.55179 [0.49456, 0.60901]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008884 PGS001277
(GBE_HC203)
PSS004345|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: PE +/- DVT AUROC: 0.8083 [0.66236, 0.95424] : 0.12334
Incremental AUROC (full-covars): -0.0014
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.51341 [0.35575, 0.67107]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008885 PGS001277
(GBE_HC203)
PSS004346|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: PE +/- DVT AUROC: 0.67497 [0.64702, 0.70293] : 0.03998
Incremental AUROC (full-covars): 0.03149
PGS R2 (no covariates): 0.01508
PGS AUROC (no covariates): 0.61144 [0.58149, 0.6414]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008886 PGS001277
(GBE_HC203)
PSS004347|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: PE +/- DVT AUROC: 0.69135 [0.62082, 0.76187] : 0.03814
Incremental AUROC (full-covars): 0.03509
PGS R2 (no covariates): 0.01582
PGS AUROC (no covariates): 0.63463 [0.5672, 0.70206]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008887 PGS001277
(GBE_HC203)
PSS004348|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: PE +/- DVT AUROC: 0.64659 [0.63085, 0.66233] : 0.02867
Incremental AUROC (full-covars): 0.03414
PGS R2 (no covariates): 0.0129
PGS AUROC (no covariates): 0.59812 [0.58116, 0.61507]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008888 PGS001278
(GBE_BIN_FC12006152)
PSS003795|
African Ancestry|
6,348 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the leg (DVT) or lung AUROC: 0.59279 [0.55016, 0.63542] : 0.01242
Incremental AUROC (full-covars): -0.00635
PGS R2 (no covariates): 0.00013
PGS AUROC (no covariates): 0.5015 [0.45729, 0.5457]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008889 PGS001278
(GBE_BIN_FC12006152)
PSS003796|
East Asian Ancestry|
1,640 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the leg (DVT) or lung AUROC: 0.66743 [0.52454, 0.81033] : 0.03638
Incremental AUROC (full-covars): 0.00793
PGS R2 (no covariates): 7e-05
PGS AUROC (no covariates): 0.50497 [0.35161, 0.65832]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008890 PGS001278
(GBE_BIN_FC12006152)
PSS003797|
European Ancestry|
24,838 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the leg (DVT) or lung AUROC: 0.65354 [0.63231, 0.67477] : 0.03366
Incremental AUROC (full-covars): 0.03495
PGS R2 (no covariates): 0.01331
PGS AUROC (no covariates): 0.59164 [0.56886, 0.61442]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008891 PGS001278
(GBE_BIN_FC12006152)
PSS003798|
South Asian Ancestry|
7,556 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the leg (DVT) or lung AUROC: 0.63523 [0.58822, 0.68224] : 0.02321
Incremental AUROC (full-covars): 0.01038
PGS R2 (no covariates): 0.00457
PGS AUROC (no covariates): 0.55523 [0.50541, 0.60504]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008892 PGS001278
(GBE_BIN_FC12006152)
PSS003799|
European Ancestry|
67,349 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the leg (DVT) or lung AUROC: 0.63525 [0.6226, 0.64791] : 0.02918
Incremental AUROC (full-covars): 0.03836
PGS R2 (no covariates): 0.01554
PGS AUROC (no covariates): 0.58956 [0.57602, 0.6031]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008893 PGS001279
(GBE_BIN_FC8006152)
PSS004014|
African Ancestry|
6,348 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the lung AUROC: 0.63917 [0.56071, 0.71763] : 0.02075
Incremental AUROC (full-covars): 0.01133
PGS R2 (no covariates): 0.00182
PGS AUROC (no covariates): 0.53508 [0.45261, 0.61756]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008894 PGS001279
(GBE_BIN_FC8006152)
PSS004015|
East Asian Ancestry|
1,640 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the lung AUROC: 0.82557 [0.62097, 1.0] : 0.16736
Incremental AUROC (full-covars): -0.00024
PGS R2 (no covariates): 0.00388
PGS AUROC (no covariates): 0.57456 [0.37482, 0.77429]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008895 PGS001279
(GBE_BIN_FC8006152)
PSS004016|
European Ancestry|
24,838 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the lung AUROC: 0.62994 [0.59262, 0.66726] : 0.01985
Incremental AUROC (full-covars): 0.03629
PGS R2 (no covariates): 0.00848
PGS AUROC (no covariates): 0.59191 [0.55186, 0.63196]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008896 PGS001279
(GBE_BIN_FC8006152)
PSS004017|
South Asian Ancestry|
7,556 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the lung AUROC: 0.71053 [0.63261, 0.78846] : 0.04621
Incremental AUROC (full-covars): 0.02759
PGS R2 (no covariates): 0.00898
PGS AUROC (no covariates): 0.60144 [0.50751, 0.69537]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008897 PGS001279
(GBE_BIN_FC8006152)
PSS004018|
European Ancestry|
67,349 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Blood clot in the lung AUROC: 0.62416 [0.60164, 0.64668] : 0.01763
Incremental AUROC (full-covars): 0.04457
PGS R2 (no covariates): 0.01146
PGS AUROC (no covariates): 0.60034 [0.57683, 0.62385]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008898 PGS001280
(GBE_HC943)
PSS004731|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE PE AUROC: 0.64593 [0.59381, 0.69806] : 0.02844
Incremental AUROC (full-covars): 0.007
PGS R2 (no covariates): 0.00302
PGS AUROC (no covariates): 0.54566 [0.48787, 0.60344]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008899 PGS001280
(GBE_HC943)
PSS004732|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE PE AUROC: 0.80741 [0.66178, 0.95305] : 0.12326
Incremental AUROC (full-covars): -0.00228
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.51798 [0.36629, 0.66968]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008900 PGS001280
(GBE_HC943)
PSS004733|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE PE AUROC: 0.67617 [0.64866, 0.70368] : 0.04057
Incremental AUROC (full-covars): 0.02926
PGS R2 (no covariates): 0.01403
PGS AUROC (no covariates): 0.60765 [0.57812, 0.63719]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008901 PGS001280
(GBE_HC943)
PSS004734|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE PE AUROC: 0.68371 [0.61554, 0.75187] : 0.03438
Incremental AUROC (full-covars): 0.03127
PGS R2 (no covariates): 0.01152
PGS AUROC (no covariates): 0.6164 [0.54879, 0.684]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008902 PGS001280
(GBE_HC943)
PSS004735|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE PE AUROC: 0.65102 [0.6355, 0.66654] : 0.03061
Incremental AUROC (full-covars): 0.03417
PGS R2 (no covariates): 0.01357
PGS AUROC (no covariates): 0.59996 [0.58313, 0.61679]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS003795
[
  • 160 cases
  • , 6,188 controls
]
African unspecified UKB
PSS003796
[
  • 12 cases
  • , 1,628 controls
]
East Asian UKB
PSS003797
[
  • 640 cases
  • , 24,198 controls
]
European non-white British ancestry UKB
PSS003798
[
  • 136 cases
  • , 7,420 controls
]
South Asian UKB
PSS003799
[
  • 1,859 cases
  • , 65,490 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004344
[
  • 99 cases
  • , 6,398 controls
]
African unspecified UKB
PSS004345
[
  • 8 cases
  • , 1,696 controls
]
East Asian UKB
PSS004346
[
  • 358 cases
  • , 24,547 controls
]
European non-white British ancestry UKB
PSS004731
[
  • 96 cases
  • , 6,401 controls
]
African unspecified UKB
PSS004348
[
  • 1,130 cases
  • , 66,295 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004732
[
  • 8 cases
  • , 1,696 controls
]
East Asian UKB
PSS004733
[
  • 363 cases
  • , 24,542 controls
]
European non-white British ancestry UKB
PSS004734
[
  • 53 cases
  • , 7,778 controls
]
South Asian UKB
PSS004347
[
  • 53 cases
  • , 7,778 controls
]
South Asian UKB
PSS004735
[
  • 1,155 cases
  • , 66,270 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004014
[
  • 54 cases
  • , 6,294 controls
]
African unspecified UKB
PSS004015
[
  • 5 cases
  • , 1,635 controls
]
East Asian UKB
PSS004016
[
  • 211 cases
  • , 24,627 controls
]
European non-white British ancestry UKB
PSS004017
[
  • 36 cases
  • , 7,520 controls
]
South Asian UKB
PSS004018
[
  • 584 cases
  • , 66,765 controls
]
European white British ancestry UKB Testing cohort (heldout set)