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VKORC1 -1639 G>A Polymorphism in Romanian Patients With Deep Vein Thrombosis

Ştefan Cristian Vesa1, Adrian Pavel Trifa2, Sorin Crişan3

  • 1Department of Pharmacology, Toxicology and Clinical Pharmacology, "Iuliu Haţieganu" University of Medicine and Pharmacy Cluj-Napoca, Cluj-Napoca, Romania stefanvesa@gmail.com.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|May 16, 2015
PubMed

Insights

Genetic factors, including varicose veins and factor V Leiden mutation, influence deep vein thrombosis (DVT) risk. The VKORC1 -1693 G>A AA genotype showed a protective effect against DVT.

Area of Science:

  • Genetics
  • Thrombosis Research
  • Vascular Medicine

Background:

  • Deep vein thrombosis (DVT) is a significant vascular condition.
  • Genetic predispositions and clinical factors contribute to DVT risk.
  • Understanding these factors is crucial for risk assessment and prevention.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms and acute unprovoked lower extremity deep vein thrombosis (DVT).
  • Specifically, to examine the role of the VKORC1 gene -1693 G>A polymorphism in DVT risk.
  • To evaluate the influence of other genetic factors and varicose veins on DVT occurrence.

Main Methods:

  • A case-control study involving 127 DVT patients and 114 controls.
  • Genotyping for factor V Leiden (FVL) mutation, prothrombin G20210A mutation, VKORC1 -1639 G>A, and PAI-1 -675 4G/5G.
  • Data collection included medical history, presence of varicose veins, and demographic information.

Main Results:

  • Varicose veins were significantly more prevalent in DVT patients (52.8%) compared to controls (25.4%).
  • Factor V Leiden (FVL) mutation was also more common in patients (22.8%) than controls (8.8%).
  • The VKORC1 -1693 G>A polymorphism showed differential distribution, with the AA genotype being less frequent in patients.

Conclusions:

  • Varicose veins and FVL are independent risk factors for DVT.
  • The VKORC1 -1639 G>A polymorphism is associated with DVT risk.
  • The VKORC1 -1693 G>A AA genotype demonstrated a protective effect, reducing DVT occurrence (OR=0.435).
Abstract

Keywords:
clinical thrombophiliadeep venous thrombosisgene polymorphismsthrombophilia

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