Genetic risk factors for venous thromboembolism

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Bengt Zöller1, Peter J Svensson2, Björn Dahlbäck3

  • 1Center for Primary Health Care Research, Lund University , Malmö, Sweden.

Expert Review of Hematology
|August 1, 2020
PubMed

Insights

Venous thromboembolism (VTE) is a genetic and acquired condition. Identifying genetic risk factors is crucial for managing high-risk individuals and may change future VTE treatment strategies.

Area of Science:

  • Genetics
  • Thrombosis
  • Vascular Medicine

Background:

  • Venous thromboembolism (VTE) is a complex familial disease.
  • Both acquired and genetic factors contribute to VTE risk.
  • Recognizing and managing high-risk individuals is critical.

Purpose of the Study:

  • To summarize genetic risk factors for VTE.
  • To discuss clinical consequences and future perspectives.
  • To explore the impact of genetic variants on VTE management.

Main Methods:

  • Review of classical thrombophilia (Factor V Leiden, Prothrombin G20210A, deficiencies of antithrombin, protein C, S).
  • Inclusion of findings from Genome-Wide Association Studies (GWAS), Transcriptome-Wide Association Studies (TWAS), and Genetic Risk Scores (GRS).
  • Discussion of VTE candidate genes, expression studies, animal models, next-generation sequencing, and pathway analysis.

Main Results:

  • Classical thrombophilia variants and deficiencies are established genetic risk factors.
  • GWAS, TWAS, and GRS are identifying new genetic contributors to VTE.
  • Multiple genetic risk variants are increasingly recognized.

Conclusions:

  • Screening for inherited thrombophilia is indicated in specific cases.
  • Identification of strong genetic risk variants can influence VTE management.
  • The growing number of identified genetic risk variants is expected to transform VTE treatment approaches.
Abstract

Keywords:
Venous thromboembolismantithrombin deficiencydeep vein thrombosisgeneticsgenome-wide association studymolecular epidemiologyprotein C deficiencyprotein S deficiencypulmonary embolismthrombophilia

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