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

    Factor V Leiden and thermolabile methylenetetrahydrofolate reductase in extreme old age.

    Rees DC, Liu YT, Cox MJ, Elliott P, Wainscoat JS.

    MRC Molecular Haematology Unit, Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.

    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.

    PMID: 9408019 [PubMed - indexed for MEDLINE]

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