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 w... ith infarction of the lung. [NCIT: P378]Show more
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
  • ICD9:415.19
  • MEDGEN:11027
  • 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
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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)
PGS001277
(GBE_HC203)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
PE +/- DVTpulmonary embolism,
deep vein thrombosis		96
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001277/ScoringFiles/PGS001277.txt.gz
PGS001278
(GBE_BIN_FC12006152)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
previously: Blood clot in the leg (DVT) or lungpulmonary embolism,
deep vein thrombosis		551
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001278/ScoringFiles/PGS001278.txt.gz
PGS001279
(GBE_BIN_FC8006152)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
previously: Blood clot in the lungpulmonary embolism,
deep vein thrombosis		94
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001279/ScoringFiles/PGS001279.txt.gz
PGS001280
(GBE_HC943)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
PE (time-to-event)pulmonary embolism88
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001280/ScoringFiles/PGS001280.txt.gz
PGS003861
(PRS288_PE)
PGP000499 |
Zhang Z et al. BMC Med (2023)
Pulmonary embolismpulmonary embolism288
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003861/ScoringFiles/PGS003861.txt.gz
PGS004460
(disease.I26.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
I26 (Pulmonary embolism)pulmonary embolism1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004460/ScoringFiles/PGS004460.txt.gz
PGS004530
(meta.I26.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
I26 (Pulmonary embolism)pulmonary embolism1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004530/ScoringFiles/PGS004530.txt.gz
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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.

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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
PPM008883PGS001277
(GBE_HC203)
PSS004344|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: PE +/- DVT—AUROC: 0.65081 [0.59936, 0.70226]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008884PGS001277
(GBE_HC203)
PSS004345|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: PE +/- DVT—AUROC: 0.8083 [0.66236, 0.95424]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008885PGS001277
(GBE_HC203)
PSS004346|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: PE +/- DVT—AUROC: 0.67497 [0.64702, 0.70293]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008886PGS001277
(GBE_HC203)
PSS004347|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: PE +/- DVT—AUROC: 0.69135 [0.62082, 0.76187]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008887PGS001277
(GBE_HC203)
PSS004348|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: PE +/- DVT—AUROC: 0.64659 [0.63085, 0.66233]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008888PGS001278
(GBE_BIN_FC12006152)
PSS003795|
African Ancestry|
6,348 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the leg (DVT) or lung—AUROC: 0.59279 [0.55016, 0.63542]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008889PGS001278
(GBE_BIN_FC12006152)
PSS003796|
East Asian Ancestry|
1,640 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the leg (DVT) or lung—AUROC: 0.66743 [0.52454, 0.81033]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008890PGS001278
(GBE_BIN_FC12006152)
PSS003797|
European Ancestry|
24,838 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the leg (DVT) or lung—AUROC: 0.65354 [0.63231, 0.67477]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008891PGS001278
(GBE_BIN_FC12006152)
PSS003798|
South Asian Ancestry|
7,556 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the leg (DVT) or lung—AUROC: 0.63523 [0.58822, 0.68224]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008892PGS001278
(GBE_BIN_FC12006152)
PSS003799|
European Ancestry|
67,349 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the leg (DVT) or lung—AUROC: 0.63525 [0.6226, 0.64791]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008893PGS001279
(GBE_BIN_FC8006152)
PSS004014|
African Ancestry|
6,348 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the lung—AUROC: 0.63917 [0.56071, 0.71763]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008894PGS001279
(GBE_BIN_FC8006152)
PSS004015|
East Asian Ancestry|
1,640 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the lung—AUROC: 0.82557 [0.62097, 1.0]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008895PGS001279
(GBE_BIN_FC8006152)
PSS004016|
European Ancestry|
24,838 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the lung—AUROC: 0.62994 [0.59262, 0.66726]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008896PGS001279
(GBE_BIN_FC8006152)
PSS004017|
South Asian Ancestry|
7,556 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the lung—AUROC: 0.71053 [0.63261, 0.78846]PGS R2 (no covariates): 0.00898
R²: 0.04621
Incremental AUROC (full-covars): 0.02759
PGS AUROC (no covariates): 0.60144 [0.50751, 0.69537]		age, sex, UKB array type, Genotype PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM008897PGS001279
(GBE_BIN_FC8006152)
PSS004018|
European Ancestry|
67,349 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Blood clot in the lung—AUROC: 0.62416 [0.60164, 0.64668]R²: 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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
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Evaluated Samples

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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
]
—Europeannon-white British ancestryUKB—
PSS003798——
[
  • 136 cases
  • , 7,420 controls
]
—South Asian—UKB—
PSS003799——
[
  • 1,859 cases
  • , 65,490 controls
]
—Europeanwhite British ancestryUKBTesting 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
]
—Europeannon-white British ancestryUKB—
PSS004017——
[
  • 36 cases
  • , 7,520 controls
]
—South Asian—UKB—
PSS004018——
[
  • 584 cases
  • , 66,765 controls
]
—Europeanwhite British ancestryUKBTesting 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
]
—Europeannon-white British ancestryUKB—
PSS004347——
[
  • 53 cases
  • , 7,778 controls
]
—South Asian—UKB—
PSS004348——
[
  • 1,130 cases
  • , 66,295 controls
]
—Europeanwhite British ancestryUKBTesting cohort (heldout set)
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