Factor V Leiden and thermolabile methylenetetrahydrofolate reductase in extreme old age

Thromb Haemost. 1997 Nov;78(5):1357-9.

Abstract

Both factor V Leiden and the C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with premature vascular disease, and yet are found at surprisingly high allele frequencies in European populations, 2.7% and 35% respectively. We have investigated the prevalence of these mutations in 87 UK residents over the age of ninety, to look for any evidence of their association with premature death. Five factor V Leiden heterozygotes were found, giving an allele frequency of 2.9%, similar to that in the general UK population. The frequency of the thermolabile C677T MTHFR mutation was 36% with 11% homozygotes, again similar to that in the UK population; these genotypes are in Hardy-Weinberg equilibrium, suggesting that there is not strong selection against the homozygous state. One person was both heterozygous for factor V Leiden and homozygous for the C677T mutation. This study suggests that neither factor V Leiden nor thermolabile MTHFR are risk factors for premature death.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Aging / blood*
  • Aging / genetics
  • Alleles
  • Factor V / genetics*
  • Gene Frequency
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Oxidoreductases Acting on CH-NH Group Donors / blood
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation
  • Risk Factors
  • Temperature
  • Thrombophlebitis / blood
  • Thrombophlebitis / genetics
  • Thrombophlebitis / physiopathology*

Substances

  • factor V Leiden
  • Factor V
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)