Trait: venous thromboembolism

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004286
Description Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. [NCIT: C99537]
Trait category
Cardiovascular disease
Synonyms 2 synonyms
  • VTE
  • venous thromboembolism
Mapped terms 11 mapped terms
  • ICD10:I74
  • ICD10:I82
  • MEDGEN:348285
  • MESH:D054556
  • MONDO:0005399
  • MeSH:D054556
  • MedDRA:10066899
  • NCIT:C99537
  • NCIt:C99537
  • UMLS:C1861172
  • icd11.foundation:1197943614

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)
PGS000043
(PRS_VTE)
 PGP000030 |
Klarin D et al. Nat Genet (2019)
 Venous thromboembolism venous thromboembolism 297
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000043/ScoringFiles/PGS000043.txt.gz
PGS001796
(1kgeur_gbmi_leaveUKBBout_VTE_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Venous thromboembolism venous thromboembolism 910,337
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001796/ScoringFiles/PGS001796.txt.gz
PGS002235
(elasticnet_VTE)
 PGP000267 |
Kolin DA et al. Sci Rep (2021)
 Venous thromboembolism venous thromboembolism 36
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002235/ScoringFiles/PGS002235.txt.gz
PGS002772
(Venous_thromboembolism_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Venous thromboembolism venous thromboembolism 1,052,790
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002772/ScoringFiles/PGS002772.txt.gz
PGS002794
(PRS_VTE)
 PGP000375 |
Xie J et al. J Thromb Haemost (2022)
 Venous thromboembolism venous thromboembolism 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002794/ScoringFiles/PGS002794.txt.gz
PGS003332
(PRS_VTE_EUR_GHOUSE)
 PGP000398 |
Ghouse J et al. Nat Genet (2023)
 Venous thromboembolism venous thromboembolism 1,092,045
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003332/ScoringFiles/PGS003332.txt.gz
PGS003456
(PRS273_VTE)
 PGP000449 |
Folsom AR et al. PLoS One (2023)
 Venous thromboembolism venous thromboembolism 273
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003456/ScoringFiles/PGS003456.txt.gz
PGS004501
(disease.VTE.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Venous thromboembolism (VTE) venous thromboembolism 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004501/ScoringFiles/PGS004501.txt.gz
PGS004571
(meta.VTE.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Venous thromboembolism (VTE) venous thromboembolism 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004571/ScoringFiles/PGS004571.txt.gz
PGS004853
(VTE_PRSmix_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Venous thromboembolism venous thromboembolism 828,099
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004853/ScoringFiles/PGS004853.txt.gz
PGS004854
(VTE_PRSmixPlus_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Venous thromboembolism venous thromboembolism 2,268,993
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004854/ScoringFiles/PGS004854.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
PPM001639 PGS000043
(PRS_VTE)
 PSS000850|
European Ancestry|
715 individuals
 PGP000133 |
Naito T et al. Gastroenterology (2020)
|Ext.		 Reported Trait: Thromboembolic disease event in individuals with inflammatory bowel disease — — Odds Ratio (OR, top 5% vs. remaining 95%): 2.7 [1.03, 7.09] Age at last visit, PCs(1-2) Included 265/297 variants from the original score
PPM000102 PGS000043
(PRS_VTE)
 PSS000066|
European Ancestry|
55,965 individuals
 PGP000030 |
Klarin D et al. Nat Genet (2019)
 Reported Trait: Venous thromboembolism — — OR (top 5% of individuals with the highest PRS_VTE relative to the rest of the population): 2.89 [2.52, 3.3] age, sex, 5 PCs of ancestry —
PPM000103 PGS000043
(PRS_VTE)
 PSS000067|
European Ancestry|
10,975 individuals
 PGP000030 |
Klarin D et al. Nat Genet (2019)
 Reported Trait: Venous thromboembolism — — HR (top 5% of individuals with the highest PRS_VTE relative to the rest of the population): 2.51 [1.97, 3.19] age, 10 PCs of ancestry, hormone therapy intervention status —
PPM001640 PGS000043
(PRS_VTE)
 PSS000850|
European Ancestry|
715 individuals
 PGP000133 |
Naito T et al. Gastroenterology (2020)
|Ext.		 Reported Trait: Thromboembolic disease event in individuals with inflammatory bowel disease — — Odds Ratio (OR, top 5% vs. remaining 95%): 3.13 [1.37, 7.18] Disease duration, age at disease onset, PCs(1-2) Included 265/297 variants from the original score
PPM001641 PGS000043
(PRS_VTE)
 PSS000850|
European Ancestry|
715 individuals
 PGP000133 |
Naito T et al. Gastroenterology (2020)
|Ext.		 Reported Trait: Thromboembolic disease event in in individuals of inflammatory bowel disease that are carriers of at least 1 thrombophillia pathogenic variant — — Odds Ratio (OR, top 5% vs. remaining 95%): 8.56 [1.76, 41.57] Age at last visit, PCs(1-2) Included 265/297 variants from the original score
PPM001939 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism HR: 1.47 [1.29, 1.68] — Hazard Ratio (HR, top tertile vs bottom tertile): 2.7 [1.8, 4.06] Age, sex, PCs(1-5), obesity(BMI≥30), active smoking, history of heart failure, diabetes status. 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM001940 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism — — Hazard Ratio (HR, middle tertile vs bottom 3.33%): 1.88 [1.23, 2.89] Age, sex, PCs(1-5), obesity(BMI≥30), active smoking, history of heart failure, diabetes status. 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM001941 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism — C-index: 0.67 [0.63, 0.71] — — 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM001942 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism — C-index: 0.67 [0.63, 0.71] — Age, obesity(BMI≥30), active smoking, history of heart failure, diabetes status. 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM001943 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism in individuals without monogenic mutations HR: 1.53 [1.3, 1.82] — Hazard Ratio (HR, top tertile vs. bottom tertile): 2.88 [1.85, 4.49] Age, sex, PCs(1-5), obesity(BMI≥30), active smoking, history of heart failure, diabetes status. 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM001944 PGS000043
(PRS_VTE)
 PSS000973|
European Ancestry|
29,663 individuals
 PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		 Reported Trait: Venous Thromboembolism in individuals without monogenic mutations — — Hazard Ratio (HR, middle tertile vs. bottom tertile): 2.11 [1.34, 3.33] Age, sex, PCs(1-5), obesity(BMI≥30), active smoking, history of heart failure, diabetes status. 273 of original 297 SNPs from Klarin et al (PGS000043) used that reached minimum imputation of 0.58.
PPM014990 PGS000043
(PRS_VTE)
 PSS009948|
Multi-ancestry (including European)|
615,967 individuals
 PGP000369 |
Jaworek T et al. Neurology (2022)
|Ext.		 Reported Trait: Early onset stroke OR: 1.13 [1.1, 1.16] — — 10 principal components for ancestry and sex —
PPM014991 PGS000043
(PRS_VTE)
 PSS009948|
Multi-ancestry (including European)|
615,967 individuals
 PGP000369 |
Jaworek T et al. Neurology (2022)
|Ext.		 Reported Trait: Late onset stroke OR: 1.04 [1.01, 1.08] — — 10 principal components for ancestry and sex —
PPM009310 PGS001796
(1kgeur_gbmi_leaveUKBBout_VTE_pst_eff_a1_b0.5_phiauto)
 PSS007700|
African Ancestry|
6,137 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Venous thromboembolism — AUROC: 0.672 Nagelkerke's R2 (covariates regressed out): 0.00488 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009300 PGS001796
(1kgeur_gbmi_leaveUKBBout_VTE_pst_eff_a1_b0.5_phiauto)
 PSS007719|
European Ancestry|
356,269 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Venous thromboembolism — AUROC: 0.675 Nagelkerke's R2 (covariates regressed out): 0.02221 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM012709 PGS002235
(elasticnet_VTE)
 PSS009500|
European Ancestry|
269,164 individuals
 PGP000267 |
Kolin DA et al. Sci Rep (2021)
 Reported Trait: Incident venous thromboembolism — — Odds Ratio (OR, top 1% vs bottom 99%): 5.37 [5.34, 5.4] — —
PPM012710 PGS002235
(elasticnet_VTE)
 PSS009500|
European Ancestry|
269,164 individuals
 PGP000267 |
Kolin DA et al. Sci Rep (2021)
 Reported Trait: Incident venous thromboembolism — — Subhazard ratio (SHR, top 20.2% vs bottom 79.8%): 3.02 [2.63, 3.47] — —
PPM012711 PGS002235
(elasticnet_VTE)
 PSS009500|
European Ancestry|
269,164 individuals
 PGP000267 |
Kolin DA et al. Sci Rep (2021)
 Reported Trait: Incident venous thromboembolism — — Subhazard ratio (SHR, top 20.2% vs bottom 79.8%): 7.51 [6.28, 8.98] — —
PPM014972 PGS002772
(Venous_thromboembolism_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Venous thromboembolism OR: 1.41 [1.34, 1.48] — — age, sex, 10 PCs, technical covariates —
PPM015496 PGS002794
(PRS_VTE)
 PSS009962|
Ancestry Not Reported|
359,310 individuals
 PGP000375 |
Xie J et al. J Thromb Haemost (2022)
 Reported Trait: Incident venous thromboembolism witihin 28 days after first dose of COVID-19 vaccination HR: 1.38 [1.13, 1.7] — — Age (at the index date), sex, and genetic ancestry (quantified by the first ten principal components —
PPM015497 PGS002794
(PRS_VTE)
 PSS009962|
Ancestry Not Reported|
359,310 individuals
 PGP000375 |
Xie J et al. J Thromb Haemost (2022)
 Reported Trait: Incident venous thromboembolism witihin 90 days after first dose of COVID-19 vaccination HR: 1.34 [1.2, 1.5] — — Age (at the index date), sex, and genetic ancestry (quantified by the first ten principal components —
PPM016143 PGS003332
(PRS_VTE_EUR_GHOUSE)
 PSS010047|
European Ancestry|
436,440 individuals
 PGP000398 |
Ghouse J et al. Nat Genet (2023)
 Reported Trait: Prevalent VTE OR: 1.51 AUROC: 0.664 [0.659, 0.669] — age, sex, 4 PCs —
PPM020880 PGS003332
(PRS_VTE_EUR_GHOUSE)
 PSS011439|
Multi-ancestry (including European)|
70,406 individuals
 PGP000597 |
Shi Z et al. Thromb Res (2023)
|Ext.		 Reported Trait: Incident cancer-associated thrombosis — — Hazard ratio (HR, top PRS decile vs rest): 1.75 [1.62, 1.88] Age, gender, BMI and 10 PCs —
PPM022174 PGS003332
(PRS_VTE_EUR_GHOUSE)
 PSS011827|
Multi-ancestry (including European)|
8,210 individuals
 PGP000681 |
Rifkin AS et al. World J Gastroenterol (2023)
|Ext.		 Reported Trait: Incident venous thromboembolism in individuals with inflammatory bowel disease — AUROC: 0.68 [0.65, 0.71] Hazard ratio (HR, PGS in top 10% vs middle 80%): 1.98 [1.52, 2.57] Sex, body mass index, 10 PCs 1,515 SNPs from F2 and F5 genes excluded
PPM017257 PGS003456
(PRS273_VTE)
 PSS010177|
African Ancestry|
2,484 individuals
 PGP000449 |
Folsom AR et al. PLoS One (2023)
 Reported Trait: Total venous thromboembolism — — Hazard ratio (HR, high vs low tertile): 1.35 [0.81, 2.25] Adjusted for age, sex, principal components of ancestry, hormone replacement therapy (current, former, never for women, with men as referent category), education level (<high school, high school grad, >high school grad), household income (<$12,000, $12,000 to $24,999, $25,000 to $49,999, $50,000+, missing), height (continuous), weight (continuous), estimated glomerular filtration rate (continuous), diabetes (yes defined as >126 mg/dL, medication or physician diagnosis; no), smoking status (current, former, never), sports physical activity level (continuous), systolic blood pressure (continuous), antihypertensive medication use (yes, no) —
PPM017256 PGS003456
(PRS273_VTE)
 PSS010178|
European Ancestry|
8,808 individuals
 PGP000449 |
Folsom AR et al. PLoS One (2023)
 Reported Trait: Total venous thromboembolism — — Hazard ratio (HR, high vs low tertile): 2.52 [1.99, 3.2] Adjusted for age, sex, principal components of ancestry, hormone replacement therapy (current, former, never for women, with men as referent category), education level (<high school, high school grad, >high school grad), household income (<$12,000, $12,000 to $24,999, $25,000 to $49,999, $50,000+, missing), height (continuous), weight (continuous), estimated glomerular filtration rate (continuous), diabetes (yes defined as >126 mg/dL, medication or physician diagnosis; no), smoking status (current, former, never), sports physical activity level (continuous), systolic blood pressure (continuous), antihypertensive medication use (yes, no) —
PPM020616 PGS004501
(disease.VTE.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Venous thromboembolism (VTE) OR: 1.25405 — — — —
PPM020686 PGS004571
(meta.VTE.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Venous thromboembolism (VTE) OR: 1.21176 — — — —
PPM021078 PGS004853
(VTE_PRSmix_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: venous thromboembolism — — Incremental R2 (Full model versus model with only covariates): 0.047 [0.039, 0.056] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021079 PGS004854
(VTE_PRSmixPlus_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: venous thromboembolism — — Incremental R2 (Full model versus model with only covariates): 0.058 [0.049, 0.067] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)

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
PSS011827 — —
[
  • 366 cases
  • , 7,435 controls
]
 — European — UKB —
PSS011827 — —
[
  • 12 cases
  • , 397 controls
]
 — Not reported — UKB —
PSS010177 — Median = 28.0 years 2,484 individuals — African unspecified — ARIC —
PSS010178 — Median = 28.0 years 8,808 individuals — European — ARIC —
PSS011465 — — 9,462 individuals — European — AllofUs —
PSS009962 — — 359,310 individuals,
44.6 % Male samples
 Mean = 69.05 years
Sd = 8.04 years		 Not reported — UKB —
PSS011439 — — 68,709 individuals,
52.59 % Male samples
 Mean = 60.42 years
Ci = [60.37, 60.48] years		 European — UKB —
PSS011439 — — 105 individuals,
52.38 % Male samples
 Mean = 55.61 years
Ci = [54.11, 57.11] years		 African unspecified — UKB —
PSS011439 — — 730 individuals,
49.18 % Male samples
 Mean = 57.46 years
Ci = [56.89, 58.03] years		 Asian unspecified — UKB —
PSS011439 — — 862 individuals,
51.86 % Male samples
 Mean = 57.82 years
Ci = [57.28, 58.36] years		 Not reported — UKB —
PSS000850 All individuals had inflammatory bowel disease, defined on the basis of clinical symptoms as well as standard endoscopic, radiographic and histologic findings. Cases are individuals with a thromboembolic disease (TED) event. Disease activity at the time of TED for Chron's disease was measured by the Harvey-Bradshaw Index and colonoscopy report at the time of clotting event (when available). Patients were considered to have active disease if they had Harvey-Bradshaw Index scores !5 and/or endoscopy showed active disease, Disease activity at the time of TED for Ulcerative Colitis was evaluated by the full Mayo score. A full Mayo score >2 was considered as active disease. —
[
  • 63 cases
  • , 652 controls
]
,
53.3 % Male samples
 — European — CSMC —
PSS007700 — —
[
  • 120 cases
  • , 6,016 controls
]
 — African unspecified Africa or admixed-ancestry diaspora UKB —
PSS000973 Cases show venous thromboembolism events, 95 of which were deep vein thrombosis and 79 were pulmonary embolism. 27,189 individuals did not carry a Venous Thromboembolism monogenic mutation. Median = 2.4 years
[
  • 174 cases
  • , 29,489 controls
]
,
74.59 % Male samples
 Mean = 64.23 years European — NR —
PSS007719 — —
[
  • 6,549 cases
  • , 349,719 controls
]
 — European — UKB —
PSS011364 — — 56,192 individuals — European — UKB —
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS000066 VTE was defined in the MVP cohort using the following diagnosis codes for: - Deep Venous Thrombosis ICD-10 codes: {I80.1, I80.2, I82.22, I82.4, I82.5} and ICD-9 codes: {451.11, 451.19, 453.2, 453.4} - Pulmonary Embolism ICD-10 codes: {I26.0, I26.9} and ICD-9 code {415.1} —
[
  • 2,100 cases
  • , 53,865 controls
]
 — European — MVP MVP Cohort = 3.0
PSS000067 — —
[
  • 690 cases
  • , 10,285 controls
]
,
0.0 % Male samples
 Mean = 65.0 years European — WHI, WHI-GARNET, WHI-HT, WHI-LLS, WHI-MS —
PSS009500 — —
[
  • 2,295 cases
  • , 266,869 controls
]
 — European
(British)		 — UKB —
PSS010047 — —
[
  • 23,723 cases
  • , 412,717 controls
]
 — European — UKB —
PSS009948 — —
[
  • 16,730 cases
  • , 599,237 controls
]
 — African unspecified, European, Hispanic or Latin American, African American or Afro-Caribbean, Asian unspecified Africa, European, Hispanics, Afro-Carribean, Pan-Asian BBJ, EPIC_CAD, GMC, RACE, UKB HELSINKI