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Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease

Richard A Baylis1, Nicholas L Smith2,3,4, Derek Klarin5,6

  • 1Department of Surgery, Division of Vascular Surgery, Stanford University School of Medicine, CA (R.A.B., E.F.).

Circulation Research
|June 10, 2021
PubMed

Insights

Genetic factors significantly contribute to venous diseases, including venous thromboembolism and chronic venous disease. Research is advancing our understanding of these genetic links and their impact on disease development.

Area of Science:

  • Medical Genetics
  • Vascular Biology
  • Epidemiology

Background:

  • Venous diseases encompass venous thromboembolism (VTE) and chronic venous disease (CVD).
  • VTE stems from hemostasis/thrombosis imbalance; CVD arises from venous hypertension and tissue damage.
  • Both conditions are prevalent, causing significant mortality (VTE) and morbidity (CVD), representing a substantial healthcare burden.

Purpose of the Study:

  • To review the current understanding of venous disease epidemiology and genetics.
  • To highlight advancements in genetic research for VTE and CVD.
  • To identify future research directions in the field.

Main Methods:

  • Review of existing epidemiological data.
  • Analysis of findings from familial and genome-wide association studies (GWAS).
  • Synthesis of current knowledge on genetic risk factors for venous diseases.

Main Results:

  • Family history is a recognized risk factor for both VTE and CVD.
  • Numerous genetic risk loci have been identified through large-scale genetic studies.
  • Genetic studies have expanded the understanding of venous disease pathogenesis.

Conclusions:

  • Genetics plays a crucial role in the risk of developing venous diseases.
  • Continued genetic research is essential for unraveling the complex etiology of VTE and CVD.
  • Integrating genetic insights may lead to improved prevention and treatment strategies.

Keywords:
geneticsgenome wide association studyvaricose veinvenous insufficiencyvenous thromboembolismvenous thrombosis

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