Evidence map›Paper›PMID 41273552›Full record

ArticleAdvances in experimental medicine and biology2026

Clinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Antonia Angelopoulou, Eleni Papakonstantinou, Dimitrios Vlachakis, George P Chrousos, Nikolaos Cosmidis, Christos Yapijakis

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Article in Advances in experimental medicine and biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Antonia AngelopoulouUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Eleni PapakonstantinouLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
Dimitrios VlachakisLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
George P ChrousosUniversity Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair of Adolescent Health Care, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Nikolaos CosmidisLaboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
Christos YapijakisUnit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. cyapi@med.uoa.gr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe most common genetic cause associated with thrombophilia is Leiden mutation (G1691A) of the coagulation factor V (F5) gene. MATERIALS AND

methodsData collected anonymously from 355 unrelated Greeks examined for the above mutation were analyzed. Bioinformatic investigation was conducted for factor V, including phylogenetic analysis, genetic network analysis, and 3D modeling of wild-type and Leiden protein.

resultsAnalysis confirmed the importance of F5 Leiden in thrombosis and the significance of a positive family history of thrombosis. In silico analysis of the F5 Leiden revealed a linkage between mammalian species and a potential functional interaction of F5 with 25 other genes, several of which have been associated with cardiovascular diseases. 3D modeling revealed that the Leiden mutation confers an H-bond network alteration in the functional region of FV, resulting in a hypercoagulable state.

conclusionsThis study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as prevention strategy components for thrombophilia, including thrombotic brain aneurysms. Bioinformatic analysis indicated the importance of the Leiden mutation in protein structure and function. The findings of this study increase understanding of molecular and clinical features of thrombophilia and may eventually lead to better prevention of thrombosis.

Indexed as

Computational BiologyFactor VMutationThrombophiliaAdultAgedFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedModels, MolecularPhylogenyThrombosisFactor Vfactor V LeidenBrain aneurysmCoagulation factor VGenetic counselingIn silico analysisThrombophilia

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PMID41273552

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