Evidence map›Paper›PMID 40496845›Full record

ArticleResearch and practice in thrombosis and haemostasis2025

Development and validation of a genetic probability for venous thromboembolism.

Zhuqing Shi, Ashley J Mulford, Huy Tran, Michal Filipczak, Song Gao, Stevie Xie, Jason Lobel, Jun Wei, Andrew S Rifkin, Annabelle Ashworth and 8 more

Abstract read
In one paragraph

Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. RResearch and practice in thrombosis and haemostasis · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Zhuqing ShiProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Ashley J MulfordGenomic Health Initiative, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Huy TranProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Michal FilipczakGenomicMD, Chicago, Illinois, USA.
Song GaoGenomicMD, Chicago, Illinois, USA.
Stevie XieGenomicMD, Chicago, Illinois, USA.
Jason LobelGenomicMD, Chicago, Illinois, USA.
Jun WeiProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Andrew S RifkinProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Annabelle AshworthProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Siqun Lilly ZhengProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Clay WiskeDepartment of Surgery, Stanford University School of Medicine, Stanford, California, USA.
David DugganTranslational Genomics Research Institute, Part of City of Hope, Phoenix, Arizona, USA.
Brian T HelfandProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Arman QamarCardiovascular Institute, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Alan R SandersGenomic Health Initiative, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.
Alfonso J TafurTranslational Genomics Research Institute, Part of City of Hope, Phoenix, Arizona, USA.
Jianfeng XuProgram for Genomic Translational Research, NorthShore University HealthSystem (Endeavor Health), Evanston, Illinois, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Factor V Leiden (FVL) and prothrombin gene mutations (PGMs), as well as recently developed polygenic scores (PGSs), have been consistently associated with venous thromboembolism (VTE) risk in European ancestry populations. Objectives: This study aimed to develop an optimized risk-assessment tool combining mutations and PGS for diverse ancestry populations. Methods: The association of VTE risk with FVL/PGM and PGS was tested using multivariable analyses in the UK Biobank. A genetic probability for VTE (GenProb-VTE) combining PGS and FVL/PGM was developed. Its discriminative and reclassification performances over FVL/PGM alone were assessed using observed VTE rate and the continuous net reclassification index, respectively. Results were validated in the Genomic Health Initiative of Endeavor Health, an ancestry-diverse health care system-based biobank. Results: Among 432,831 participants in the UK Biobank, FVL, PGM, and PGS were significantly and independently associated with VTE risk ( Conclusion: GenProb-VTE, an optimized tool combining PGS with FVL/PGM, significantly improves VTE risk assessment compared with FVL/PGM alone in diverse ancestry populations. It provides a novel tool for genetic risk assessment of VTE.

Indexed as

factor V Leiden (FVL)polygenic score (PGS)prothrombin gene mutations (PGM)reclassificationvenous thromboembolism (VTE)

Identifiers

PMID40496845
PMCPMC12149594

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.