Genetic Determinants of Venous Thrombosis
Summary
Venous thrombosis arises from inappropriate clot formation in the venous circulation and is influenced by inherited variations in coagulation regulators. Common high-impact variants such as Factor V Leiden and the prothrombin G20210A mutation confer a two- to five-fold increase in risk, while rare loss-of-function mutations in SERPINC1 (antithrombin), PROC (protein C) and PROS1 (protein S) can produce more severe predispositions. Beyond these classical defects, genome-wide association studies have uncovered additional loci affecting fibrinolysis, endothelial function and platelet activation, broadening the spectrum of genetic contributors. The interplay between common low-penetrance alleles and environmental triggers determines absolute risk, and emerging sequencing-based tests promise more precise risk stratification. Understanding these genetic factors is critical for targeted prevention, personalised anticoagulant strategies and the development of novel therapeutics aimed at modulating specific molecular pathways.
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Genetic Determinants of Venous Thrombosis publication trend
The graph below shows the total number of articles in genetic determinants of venous thrombosis across all publications each year (not limited to Nature Index journals).
Technical terms
Factor V Leiden: A single-point mutation in the Factor V gene leading to resistance to activated protein C and heightened clot formation risk.
Prothrombin G20210A mutation: A genetic variant in the prothrombin gene that elevates circulating prothrombin levels and promotes hypercoagulability.
Serpin: A family of serine protease inhibitors, including antithrombin, that regulate key steps in the coagulation cascade.
Proteoform: A specific molecular form of a protein arising from genetic variation, alternative splicing or post-translational modification.
Genome-wide association study (GWAS): An analytical approach that scans markers across the genome to identify genetic loci associated with disease susceptibility.
References
- Antithrombin: Deficiency, Diversity, and the Future of Diagnostics. Mass Spectrometry Reviews (2025).
- Molecular Mechanisms of the Impaired Heparin Pentasaccharide Interactions in 10 Antithrombin Heparin Binding Site Mutants Revealed by Enhanced Sampling Molecular Dynamics. Biomolecules (2024).
- Characterization of the Molecular Defect in Factor VR506A (∗). Journal of Biological Chemistry (1995).
- EPIDEMIOLOGY OF PROTHROMBIN G20210A MUTATION IN THE MEDITERRANEAN REGION. Mediterranean Journal of Hematology and Infectious Diseases (2011).
- Thrombophilia in East Asian countries: are there any genetic differences in these countries?. Thrombosis Journal (2016).
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