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 agematched 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.
Keywords
Factor V - HR2 haplotype - R2 allele - APC resistance - thrombosis