title: A common methylenetetrahydrofolate reductase gene mutation and longevity.
abstract: Homozygotes (TT genotype) for the C677T mutation in the gene of methylenetetrahydrofolate reductase (C677T/MTHFR mutation) constitute about 12% of the Caucasian population. They have mild hyperhomocysteinemia which is an established risk factor for cardiovascular disease. If the mutation is associated with premature death its prevalence is expected to be lower in the elderly 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 elderly, 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 genotype was 0.87 (95% confidence interval (CI), 0.69-1.11) and relative to both 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 diseases frequently leading to premature death.
authors.affiliation: Department of Medicine, County Hospital, Kalmar, Sweden. lars.brattstrom@alinks.se
authors.forename: L
authors.initials: L
authors.lastname: Brattström
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: M
authors.initials: M
authors.lastname: Hurtig
authors.forename: H
authors.initials: H
authors.lastname: Refsum
authors.forename: S
authors.initials: S
authors.lastname: Ostensson
authors.forename: L
authors.initials: L
authors.lastname: Fransson
authors.forename: K
authors.initials: K
authors.lastname: Jonés
authors.forename: F
authors.initials: F
authors.lastname: Landgren
authors.forename: L
authors.initials: L
authors.lastname: Brudin
authors.forename: P M
authors.initials: PM
authors.lastname: Ueland
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002318:Cardiovascular Diseases / Q000209:etiology / Q000235:genetics / Q000401:mortality; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics; D007231:Infant, Newborn; D008136:Longevity / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D016017:Odds Ratio; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D012307:Risk Factors; D013548:Sweden
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)