Genetic variation in the brain derived neurotrophic factor gene in Alzheimer's disease

Sara M. Bodner, Wade Berrettini, Vivianna Van Deerlin, David A. Bennett, Robert S. Wilson, John Q. Trojanowski, Steven E. Arnold

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Genes known to contribute to the genetic predisposition to Alzheimer's disease (AD) are active in pathways of neurodegeneration but explain only a minority of the genetic contribution to AD. A protein of importance in cerebral neurodegeneration is the brain-derived neurotrophic factor (BDNF). Variations in two single-nucleotide polymorphisms (SNPs) within the BDNF gene have previously been associated with AD, and one of these SNPs has also been associated with memory loss and affective disorders. We performed a case control study of three BDNF SNPs in 250 neuropathologically confirmed cases of AD and 104 unrelated controls. We did not find a significant association between the three BDNF SNPs studied and AD when evaluated individually or with haplotype analysis. Nor did BDNF genotype appear to affect the APOE ε4 association with AD. The three SNPs studied were closely linked (D′ = 0.99 across the region). We discuss possible reasons for our failure to confirm the previously reported associations.

Original languageEnglish (US)
Pages (from-to)1-5
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume134 B
Issue number1
StatePublished - Apr 5 2005
Externally publishedYes


  • Alzheimer's disease
  • APOE ε4
  • Association study
  • BDNF
  • Dementia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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