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Thromb Haemost 1997; 78(05): 1357-1359
DOI: 10.1055/s-0038-1665411
Review Article
Schattauer GmbH Stuttgart

Factor V Leiden and Thermolabile Methylenetetrahydrofolate Reductase in Extreme Old Age

D C Rees
1   The MRC Molecular Haematology Unit, Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
,
Y T Liu
1   The MRC Molecular Haematology Unit, Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
,
M J Cox
1   The MRC Molecular Haematology Unit, Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK
,
P Elliott
2   Department of Haematology, The John Radcliffe, Headington, Oxford, UK
,
J S Wainscoat
2   Department of Haematology, The John Radcliffe, Headington, Oxford, UK
› Author Affiliations
Further Information

Publication History

Received 28 1997

Accepted after resubmission 15 July 1997

Publication Date:
12 July 2018 (online)

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Summary

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.

 

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