title: Factor V Leiden and thermolabile methylenetetrahydrofolate reductase in extreme old age.
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.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.
authors.forename: D C
authors.initials: DC
authors.lastname: Rees
authors.forename: Y T
authors.initials: YT
authors.lastname: Liu
authors.forename: M J
authors.initials: MJ
authors.lastname: Cox
authors.forename: P
authors.initials: P
authors.lastname: Elliott
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging / Q000097:blood* / Q000235:genetics; D000483:Alleles; D005165:Factor V / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D012307:Risk Factors; D013696:Temperature; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics / Q000503:physiopathology*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)