PGS Publication: PGP000166

Publication Information (EuropePMC)
Title Genetic Risk Score to Identify Risk of Venous Thromboembolism in Patients With Cardiometabolic Disease.
PubMed ID 33434447(Europe PMC)
doi 10.1161/circgen.120.003006
Publication Date Jan. 12, 2021
Journal Circ Genom Precis Med
Author(s) Marston NA, Melloni GEM, Gurmu Y, Bonaca MP, Kamanu FK, Roselli C, Lee C, Cavallari I, Giugliano RP,...  Scirica BM, Bhatt DL, Steg PG, Cohen M, Storey RF, Keech AC, Raz I, Mosenzon O, Braunwald E, Lubitz SA, Ellinor PT, Sabatine MS, Ruff CT.Show more
Released in PGS Catalog: April 28, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
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South Asian
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Greater Middle Eastern
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

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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)
PGS000043
(PRS_VTE)
PGP000030 |
Klarin D et al. Nat Genet (2019)
Venous thromboembolismvenous thromboembolism297
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000043/ScoringFiles/PGS000043.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
PPM001939PGS000043
(PRS_VTE)
PSS000973|
European Ancestry|
29,663 individuals
PGP000166 |
Marston NA et al. Circ Genom Precis Med (2021)
|Ext.		Reported Trait: Venous ThromboembolismHR: 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.
PPM001940PGS000043
(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.
PPM001941PGS000043
(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.
PPM001942PGS000043
(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.
PPM001943PGS000043
(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 mutationsHR: 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.
PPM001944PGS000043
(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.
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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
PSS000973Cases show venous thromboembolism events, 95 of which were deep vein thrombosis and 79 were pulmonar... y embolism. 27,189 individuals did not carry a Venous Thromboembolism monogenic mutation.Show moreMedian = 2.4 years
[
  • 174 cases
  • , 29,489 controls
]
,
74.59 % Male samples
Mean = 64.23 yearsEuropean—NR—
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