Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease

Guido Anello, Rosa Maria Guéant-Rodríguez, Paolo Bosco, Jean Louis Guéant, Antonino Romano, Bernard Namour, Rosario Spada, Filippo Caraci, Gregory Pourié, Jean L. Daval, Raffaele Ferri

Research output: Contribution to journalArticlepeer-review


Homocysteine metabolism is influenced by genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR 677 C → T and 1298 A → C) and transcobalamin genes (TCNI 776 C → G ). We evaluated the association of homocysteine with Alzheimer's disease (AD) and the influence of related polymorphisms and APOE, in 180 cases and 181 controls from southern Italy. Homocysteine (upper tercile) was associated with AD risk, with an odds ratio of 2.8 (95% confidence interval (CI) 1.54-5.22, p=0.0008), which was increased 2.2- and 2.0-fold by MTHFR 677 T (odds ratio 6.28, 95% CI 2.88-16.20, p <0.0001) and APOE ε4 (odds ratio: 5.60, 95% CI 1.12-28.05, p=0.0361), respectively. In conclusion, association of homocysteine with AD was aggravated by MTHFR 677 T and APOE ε4 alleles.

Original languageEnglish
Pages (from-to)859-861
Number of pages3
Issue number5
Publication statusPublished - Apr 9 2004


  • Alzheimer's disease
  • Homocysteine
  • Methylene tetrahydrofolate reductase
  • Transcobalamin

ASJC Scopus subject areas

  • Neuroscience(all)


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