Arg506-Gln mutation in factor V and risk of thrombosis during pregnancy

Br J Haematol. 1996 Feb;92(2):473-8. doi: 10.1046/j.1365-2141.1996.d01-1496.x.

Abstract

Seventy women with thrombosis in pregnancy were investigated for the presence of APC resistance and the associated Arg506-Gln mutation in coagulation factor V. The mutation was found in 46% of the investigated women. Carriers of the mutation were more prone to develop thrombosis in the first pregnancy (OR (odds ratio) = 3.41; P < 0.05) and had a higher probability of recurrence (OR = 3.86; P < 0.05) compared to non-carriers. The incidence of miscarriage was not related to the mutation but its probability increased in women with thrombosis in a second or subsequent pregnancy (P < 0.025). Negative dynamics of APC response during pregnancy was observed in 20/22 women; eight of them developed APC resistance de novo. The suppression of APC response was independent of the mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA Primers
  • Factor V / genetics*
  • Female
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Pregnancy
  • Pregnancy Complications, Hematologic / etiology*
  • Retrospective Studies
  • Risk Factors
  • Thrombosis / genetics*

Substances

  • DNA Primers
  • Factor V