PGS Publication: PGP000030

Publication Information (EuropePMC)
Title Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.
PubMed ID 31676865(Europe PMC)
doi 10.1038/s41588-019-0519-3
Publication Date Nov. 1, 2019
Journal Nat Genet
Author(s) Klarin D, Busenkell E, Judy R, Lynch J, Levin M, Haessler J, Aragam K, Chaffin M, Haas M, Lindström S, Assimes TL, Huang J, Min Lee K, Shao Q, Huffman JE, Kabrhel C, Huang Y, Sun YV, Vujkovic M, Saleheen D, Miller DR, Reaven P, DuVall S, Boden WE, Pyarajan S, Reiner AP, Trégouët DA, Henke P, Kooperberg C, Gaziano JM, Concato J, Rader DJ, Cho K, Chang KM, Wilson PWF, Smith NL, O'Donnell CJ, Tsao PS, Kathiresan S, Obi A, Damrauer SM, Natarajan P, INVENT Consortium, Veterans Affairs’ Million Veteran Program.
Released in PGS Catalog: Dec. 18, 2019

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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Additional Diverse Ancestries
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
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

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
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 —

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
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 —