| Title: | Inherited thrombophilia and polygenic risk scores in venous thromboembolism : from classical testing to genomic risk prediction |
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| Authors: | ID Cosmi, Benilde (Author)
ID Gerotziafas, Grigoris T. (Author)
ID Marschang, Peter (Author)
ID Kozak, Matija (Author)
ID Catalano, Mariella (Author)
ID Stanek, Agata (Author) |
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| Files: |  PDF - Presentation file, download (294,15 KB)
MD5: 7FFB0565F2E4B4ADBB9F0988C3B53F99
 URL - Source URL, visit https://www.mp.pl/paim/issue/article/17287
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Venous thromboembolism (VTE) is a disorder due to the interaction between genetic, individually acquired and environmental factors. The aim of this narrative review is to summarize advances in genetic susceptibility to first and recurrent VTE, focusing on GWAS-derived polygenic risk scores and sequencing-based approaches, and to discuss current barriers to clinical implementation. Testing for the classical inherited thrombophilias, such as the deficiencies of natural anticoagulants antithrombin, protein C and S and the Factor V Leiden variant and the G20210A of Factor II could improve risk stratification and therapeutic decisions in VTE, although their role in VTE management remains controversial. The knowledge regarding genetic susceptibility for VTE progressed in the last two decades, beyond the classical thrombophilias, thanks to the evolution from single-gene Sanger sequencing to genome wide sequencing (GWAS) and next generation sequencing. GWAS has allowed to construct polygenic risk scores (PRS) combining the effects of multiple single-nucleotide polymorphisms. PRS could significantly improve VTE risk prediction beyond clinical factors. The integration of genetic and clinical data could improve predictive accuracy. In addition, combining GWAS with transcriptome-wide association studies and Mendelian randomization has shown that genetic risk may change across different clinical presentations of VTE and that recurrent VTE differs genetically and biologically from the initial VTE event, being associated with variants such as those of kininogen 1 and fibrinogen. PRS can stratify VTE risk beyond traditional factors in European-ancestry cohorts; recurrence may have a partially distinct genetic / proteomic architecture, but prospective clinical utility remains to be established and integrating this advanced knowledge into clinical practice remains a future challenge in VTE management. |
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| Keywords: | genome-wide association study, next-generation sequencing, polygenic risk score, recurrence, thrombophilia, venous thromboembolism |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1-11 |
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| Numbering: | Vol. 136, no. 6, [article no.] 17287 |
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| PID: | 20.500.12556/DiRROS-30749  |
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| UDC: | 616 |
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| ISSN on article: | 1897-9483 |
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| DOI: | 10.20452/pamw.17287 |
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| COBISS.SI-ID: | 277461763 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 8. 5. 2026;
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| Publication date in DiRROS: | 01.07.2026 |
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| Views: | 172 |
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| Downloads: | 146 |
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