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Related Experiment Videos

Factor XIII polymorphisms and venous thromboembolism.

Charles W Francis1

  • 1Vascular Medicine Unit, University of Rochester School of Medicine & Dentistry, NY, USA. charles_francis@urmc.rochester.edu

Archives of Pathology & Laboratory Medicine
|November 8, 2002
PubMed
Summary

The factor XIII Val34Leu polymorphism may influence venous thromboembolism risk, but current evidence is inconsistent. Further research is necessary to determine its clinical utility in evaluating thrombophilia.

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Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Factor XIII (FXIII) is crucial for fibrin cross-linking, impacting clot stability and fibrinolysis.
  • Polymorphisms in FXIII, such as Val34Leu, can alter enzyme activity and potentially influence thrombosis risk.
  • Venous thromboembolism (VTE) is a significant health concern with multifactorial causes, including genetic predispositions.

Purpose of the Study:

  • To critically review the existing literature on the association between factor XIII polymorphisms and the risk of venous thromboembolism.
  • To evaluate the biological plausibility and consistency of findings regarding FXIII variants and VTE.

Main Methods:

  • Comprehensive literature search of computerized databases and secondary sources.
  • Inclusion of studies investigating factor XIII polymorphisms, specifically Val34Leu, in relation to VTE.

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  • Review and synthesis of data from case-control studies.

    • Main Results:

    • The Val34Leu polymorphism, a common variant, results in an amino acid substitution near the thrombin cleavage site, potentially affecting FXIII activation.
    • Several case-control studies have explored the link between FXIII Val34Leu and VTE.
    • Findings are inconsistent, with some studies suggesting a protective effect, while others do not support a significant association.

    Conclusions:

    • The current evidence linking the factor XIII Val34Leu polymorphism to VTE risk is conflicting.
    • Further well-designed studies are required to clarify this association.
    • Screening for the FXIII Val34Leu polymorphism is not currently recommended for routine VTE risk assessment or thrombophilia evaluation.