ArticleBlood2024
Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank.
Article in Blood, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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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.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Unraveling the causal web of 4 adiposity indices and 92 multi-system outcomes: A body-wide Mendelian randomization study.Medicine · 2026Article
- Association of factor V leiden and ischemic stroke in young adults: a national inpatient sample analysis.Journal of thrombosis and thrombolysis · 2026Article
- Population-scale analysis reveals inherited C1-inhibitor deficiency is a polyphenotypic thrombotic disorder.Blood advances · 2026Article
- Clinical utility and costs of inpatient hereditary thrombophilia testing following acute VTE: A 5-Year retrospective study.Journal of thrombosis and thrombolysis · 2026Observational
- Review
- Investigation of Prothrombin G20210A andGenes · 2025Article
- Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene.Thrombosis journal · 2025Article
- Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.Medical sciences (Basel, Switzerland) · 2025Article
- Exploring biomarkers related to coagulation and immunity in myocardial infarction based on bioinformatics.Scientific reports · 2025Article
- Genetic Insights into Peripheral Artery Disease: A Narrative Review.Biomedicines · 2025Review
- Association Between Antidepressant Use and Risk of Venous Thromboembolism: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2025Review
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- RResearch and practice in thrombosis and haemostasis · 2025Review
- Development and validation of a genetic probability for venous thromboembolism.Research and practice in thrombosis and haemostasis · 2025Article
- Efficacy and safety of anti-Xa direct oral anticoagulants vs. warfarin in patients homozygous for Factor V Leiden and prothrombin G20210A mutations.Journal of thrombosis and thrombolysis · 2025Article
- Supercharged Hypercoagulability: A Case of Heparin-Induced Thrombocytopenia With Thrombosis in a Patient With Double Heterozygous Factor V Leiden and Prothrombin Mutations.Case reports in hematology · 2025Article
- The Microsurgical Resection of an Arteriovenous Malformation in a Patient with Thrombophilia: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2024Article
- Genetic factors, risk prediction and AI application of thrombotic diseases.Experimental hematology & oncology · 2024Review
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
abstractThe factor V Leiden (FVL; rs6025) and prothrombin G20210A (PTGM; rs1799963) polymorphisms are 2 of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood, with previous studies showing marked disagreement regarding thrombosis risk conferred by the DH genotype. Using multidimensional data from the UK Biobank (UKB) and FinnGen biorepositories, we evaluated the clinical impact of DH carrier status across 937 939 individuals. We found that 662 participants (0.07%) were DH carriers. After adjustment for age, sex, and ancestry, DH individuals experienced a markedly elevated risk of VTE compared with wild-type individuals (odds ratio [OR] = 5.24; 95% confidence interval [CI], 4.01-6.84; P = 4.8 × 10-34), which approximated the risk conferred by FVL homozygosity. A secondary analysis restricted to UKB participants (N = 445 144) found that effect size estimates for the DH genotype remained largely unchanged (OR = 4.53; 95% CI, 3.42-5.90; P < 1 × 10-16) after adjustment for commonly cited VTE risk factors, such as body mass index, blood type, and markers of inflammation. In contrast, the DH genotype was not associated with a significantly higher risk of any arterial thrombosis phenotype, including stroke, myocardial infarction, and peripheral artery disease. In summary, we leveraged population-scale genomic data sets to conduct, to our knowledge, the largest study to date on the DH genotype and were able to establish far more precise effect size estimates than previously possible. Our findings indicate that the DH genotype may occur as frequently as FVL homozygosity and may confer a similarly increased risk of VTE.
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