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 13 mapped terms
  • DOID:9477
  • HP:0002204
  • ICD10:I26
  • ICD9:415.19
  • MEDGEN:11027
  • MESH:D011655
  • MONDO:0005279
  • 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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001277
(GBE_HC203)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 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. PLoS Genet (2022)
 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. PLoS Genet (2022)
 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. PLoS Genet (2022)
 PE (time-to-event) pulmonary embolism 88
-
 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 embolism pulmonary embolism 288
-
 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 embolism 1,059,939
-
 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 embolism 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004530/ScoringFiles/PGS004530.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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. 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 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. PLoS Genet (2022)
 Reported Trait: TTE PE — AUROC: 0.64593 [0.59381, 0.69806] R²: 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. PLoS Genet (2022)
 Reported Trait: TTE PE — AUROC: 0.80741 [0.66178, 0.95305] R²: 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. PLoS Genet (2022)
 Reported Trait: TTE PE — AUROC: 0.67617 [0.64866, 0.70368] R²: 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. PLoS Genet (2022)
 Reported Trait: TTE PE — AUROC: 0.68371 [0.61554, 0.75187] R²: 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. PLoS Genet (2022)
 Reported Trait: TTE PE — AUROC: 0.65102 [0.6355, 0.66654] R²: 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
PPM018751 PGS003861
(PRS288_PE)
 PSS011090|
East Asian Ancestry|
9,456 individuals
 PGP000499 |
Zhang Z et al. BMC Med (2023)
 Reported Trait: Pulmonary embolism — AUROC: 0.765 Odds ratio (OR, 30-70th quantile vs <90th quantile): 5.08 [4.109, 6.282] — —
PPM020575 PGS004460
(disease.I26.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I26 (Pulmonary embolism) OR: 1.16684 — — — —
PPM020645 PGS004530
(meta.I26.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I26 (Pulmonary embolism) OR: 1.24245 — — — —

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)
PSS011364 — — 56,192 individuals — European — UKB —
PSS011090 — —
[
  • 646 cases
  • , 8,810 controls
]
,
46.34 % Male samples
 — East Asian
(Han Chinese)		 — CURES_China —
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)