Factor V Leiden, prothrombin G20210A, and protein C mutation frequency in Turkish venous thrombosis patients

Clin Appl Thromb Hemost. 2008 Oct;14(4):415-20. doi: 10.1177/1076029607306404. Epub 2007 Dec 26.

Abstract

Several inherited polymorphisms are associated with risk of venous thrombosis, including mutation at codon 506 of the factor V gene, mutation at position 20210 of the prothrombin gene, and mutations in the protein C gene. In this study, genotyping for factor V, prothrombin, and protein C mutations was performed in 50 patients and 25 control subjects by polymerase chain reaction-based analysis. The prevalence of factor V and prothrombin mutations was not significantly different from that in the general population. Nine of the patients had heterozygous protein C mutation. There was a high prevalence of the mutated protein C allele in the pulmonary emboli group (42.8%). Protein C mutation incidence was higher in the pulmonary emboli group than in the deep vein thrombosis (8.33%) and cerebral vein thrombosis (16.1%) groups. These results indicate that patients with protein C deficiency have a greater risk of thrombosis than patients with factor V or prothrombin G20210A mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Factor V / analysis*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Protein C / genetics*
  • Protein C Deficiency / complications
  • Prothrombin / genetics*
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics*

Substances

  • Protein C
  • factor V Leiden
  • Factor V
  • Prothrombin