Variations in the BDNF Gene in Autopsy-Confirmed Alzheimer's Disease and Dementia With Lewy Bodies in Japan

Dement Geriatr Cogn Disord. 2006;22(3):216-22. doi: 10.1159/000094933. Epub 2006 Aug 7.


Background/aim: Brain-derived neurotrophic factor (BDNF) is associated with the hippocampus and the nigrostriatal dopaminergic function. Data showing that its level was reduced in Alzheimer's disease (AD) and Parkinson's disease (PD) suggested that the BDNF function must play an important role in the pathogenetics of these diseases. Indeed, variation in the BDNF gene may confer susceptibility to AD and PD development. Recently, a functional BDNF Val66Met polymorphism has been found to be associated with episodic memory and hippocampal function, with intracellular trafficking, and with activity-dependent secretion of BDNF. To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB). In the present study, we investigated a possible association between such BDNF polymorphisms and susceptibility to AD or DLB.

Methods: BDNF genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism method in autopsy-confirmed human samples.

Results and conclusion: On comparing patients and controls, the distribution of BDNF genotypes and alleles did not differ significantly. Our findings suggest that it is unlikely that these BDNF polymorphisms play a major role in the pathogenesis of AD and DLB in the Japanese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Autopsy
  • Brain / pathology
  • Brain-Derived Neurotrophic Factor / genetics*
  • DNA / genetics
  • Female
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Humans
  • Japan / epidemiology
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology
  • Male
  • Neuropsychological Tests
  • Odds Ratio
  • Polymorphism, Genetic / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tissue Banks


  • Apolipoprotein E4
  • Apolipoproteins E
  • Brain-Derived Neurotrophic Factor
  • DNA