Homozygotes (TT genotype) for the C677T mutation in the gene of methylenete
trahydrofolate reductase (C677T/MTHFR mutation) constitute about 12% of the
Caucasian population, They have mild hyperhomocysteinemia which is an esta
blished risk factor for cardiovascular disease. If the mutation is associat
ed with premature death its prevalence is expected to be lower in the elder
ly than in the young. To test this we determined the C677T/MTHFR genotypes
in 220 newborn and 222 elderly 80-108-year-old Swedes. In the newborn and e
lderly, the allele frequency, of the C677T/MTHFR mutation was 29.1 and 27.0
% and the mutant homozygote frequency was 10.0 and 9.5%, respectively. In a
meta analysis of the present and three previous studies including a total
of 1388 elderly and 1415 younger subjects, the odds ratio (OR) representing
the likelihood of the TT genotype to attain old age relative to the CC gen
otype was 0.87 (95% confidence interval (CI), 0.69-1.11) and relative to bo
th the CC and CT genotypes was 0.83 (95% CI, 0.66-1.04). This finding does
not suggest that the C677T/MTHFR mutation is a strong risk factor for disea
ses frequently leading to premature death. (C) 1998 Elsevier Science Irelan
d Ltd. All rights reserved.