Brain-derived neurotrophic factor gene polymorphisms and Alzheimer's disease

S. Matsushita, H. Arai, T. Matsui, T. Yuzuriha, K. Urakami, T. Masaki, S. Higuchi

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82 Citations (Scopus)


Several lines of evidence have made brain-derived neurotrophic factor (BDNF) an important candidate gene conferring risk for Alzheimer's disease (AD). Recently, three studies reported an association between two single-nucleotide polymorphisms (SNP) - i.e., C270T and G196A - in the BDNF gene and AD. This attempt to confirm these associations in a larger AD sample included examination of the linkage disequilibrium of these two SNPs. Comparison of 487 Japanese AD subjects with 471 cognitively normal elderly controls showed higher frequencies of the G allele (60.5 vs. 55.5%, p = 0.028) and of both the GG and GA genotypes (85.8 vs. 79.8%, p = 0.025) of the G196A polymorphism in AD subjects than in controls and higher frequency of the T allele of the C270T polymorphism in AD subjects who were negative for apolipotrotein E4 (2.0 vs. 4.4%, p = 0.035) or positive for AD family history (2.8 vs. 7.1%, p = 0.046). These findings suggest that BDNF gene polymorphisms play some role in the development of AD.

Original languageEnglish
Pages (from-to)703-711
Number of pages9
JournalJournal of Neural Transmission
Issue number5
Publication statusPublished - 2005 May


  • Alzheimer disease
  • Apolipoprotein E (ApoE4)
  • Brain-derived neurotrophic factor
  • Case-control study, genetic association
  • Single nucleotide polymorphism (SNP)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry


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