PGS Publication: PGP000398

Publication Information (EuropePMC)
Title Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.
PubMed ID 36658437(Europe PMC)
doi 10.1038/s41588-022-01286-7
Publication Date Jan. 19, 2023
Journal Nat Genet
Author(s) Ghouse J, Tragante V, Ahlberg G, Rand SA, Jespersen JB, Leinøe EB, Vissing CR, Trudsø L, Jonsdottir I, Banasik K, Brunak S, Ostrowski SR, Pedersen OB, Sørensen E, Erikstrup C, Bruun MT, Nielsen KR, Køber L, Christensen AH, Iversen K, Jones D, Knowlton KU, Nadauld L, Halldorsson GH, Ferkingstad E, Olafsson I, Gretarsdottir S, Onundarson PT, Sulem P, Thorsteinsdottir U, Thorgeirsson G, Gudbjartsson DF, Stefansson K, Holm H, Olesen MS, Bundgaard H.
Released in PGS Catalog: Jan. 24, 2023

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000398 |
Ghouse J et al. Nat Genet (2023)
Venous thromboembolism venous thromboembolism 1,092,045

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016143 PGS003332
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

Evaluated Samples

PGS Sample Set ID
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
  • 23,723 cases
  • , 412,717 controls
European UKB