The factor V R2 allele: risk of venous thromboembolism, factor V levels and resistance to activated protein C

Thromb Haemost. 2000 Feb;83(2):204-8.

Abstract

Case-control studies have yielded conflicting results regarding the relative risk of venous thromboembolism associated with the factor V R2 allele. We calculated odds ratios in 581 patients and 469 age-matched controls. The odds ratio for the R2 allele in patients relative to controls was 1.21 (95% CI 0.84 to 1.74). These results do not support the hypothesis that the R2 allele is a risk factor for venous thromboembolism. There was no relationship between factor V levels and R2 carrier status. Normalised APC sensitivity ratios were not lower in carriers of the R2 allele. In an in vitro model progressive APC resistance was observed with factor V levels of 60% and less but ratios less than 2.4 (equivalent to a normalised ratio of 0.73) did not occur until factor V levels were less than 20%. The relationship between APC resistance and factor V level was not observed in a factor VIII-independent model.

MeSH terms

  • Activated Protein C Resistance / blood
  • Activated Protein C Resistance / complications
  • Activated Protein C Resistance / genetics
  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Amino Acid Substitution
  • Case-Control Studies
  • Factor V / adverse effects
  • Factor V / genetics*
  • Factor V / metabolism
  • Factor V Deficiency / blood
  • Female
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Models, Biological
  • Partial Thromboplastin Time
  • Point Mutation
  • Risk Factors
  • Thromboembolism / blood*
  • Thromboembolism / epidemiology
  • Thromboembolism / genetics
  • Venous Thrombosis / blood
  • Venous Thrombosis / epidemiology
  • Venous Thrombosis / genetics

Substances

  • factor V Leiden
  • Factor V