Premium
The C677T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene and Vascular Dementia
Author(s) -
Pollak Rivka Dresner,
Pollak Arthur,
Idelson Maria,
BejaranoAchache Idit,
Doron Dafna,
Blumenfeld Anat
Publication year - 2000
Publication title -
journal of the american geriatrics society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.992
H-Index - 232
eISSN - 1532-5415
pISSN - 0002-8614
DOI - 10.1111/j.1532-5415.2000.tb04725.x
Subject(s) - methylenetetrahydrofolate reductase , medicine , genotype , allele , dementia , vascular dementia , gastroenterology , genetics , disease , gene , biology
OBJECTIVE : To determine the association between the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular dementia in Ashkenazi and non‐Ashkenazi Jews. DESIGN : A case‐control study. SETTING : Nursing homes in Jerusalem, Israel. PARTICIPANTS : Two hundred fifty nine Jewish people of Ashkenazi and non‐Ashkenazi origin, older than age 70, who have vascular dementia (VD) (n = 85), Alzheimer's disease (AD) (n = 92), and who are cognitively intact (n = 82) with no clinical evidence of atherosclerotic vascular disease. MEASUREMENTS : The frequencies of the mutant allele (T allele) and homozygotes for the C677T MTHFR mutation (T/T genotype). The total plasma homocysteine (tHCT) level in 75 subjects. RESULTS : There were no significant differences in the frequencies of the T/T genotype or T allele among VD, AD, and cognitively intact older people of the same ethnic origin (0.15, 0.19, 0.25 T/T genotype and 0.42, 0.46, 0.47 T allele in Ashkenazi; 0.08, 0.06, 0.10 T/T genotype and 0.28, 0.32, 0.33 T allele in non‐Ashkenazi with VD and AD, and in cognitively intact older people, respectively). The relative risk of VD associated with the T/T genotype versus the C/C genotype was 0.62 (95% CI, 0.19‐1.19) in Ashkenazi and 0.65 (95% CI, 0.11‐3.7) in non‐Ashkenazi, respectively. The relative risk of AD associated with the T/T genotype was 0.85 (95% CI, 0.29‐2.45) in Ashkenazi and 0.62 (95% CI, 0.1–4.3) in non‐Ashkenazi, respectively. The frequencies of mutant homozygotes and allele were significantly higher in Ashkenazi than in non‐Ashkenazi Jews (19.9% vs 7.5% T/T genotype, X 2 = 6.2, P = .01, 0.45 vs 0.31 T allele, X 2 = 9.77, P = .002 in Ashkenazi vs non‐Ashkenazi, respectively). There were no differences in mean tHCT concentration among VD, AD, and cognitively intact older people. CONCLUSIONS : The MTHFR C677T is not associated with an increased risk of vascular dementia or Alzheimer's disease. The frequency of the mutation is significantly higher in Ashkenazi compared with non‐Ashkenazi Jews. J Am. Geriatr Soc 48:664–668, 2000 .