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Genetic variants in brain-derived neurotrophic factor associated with Alzheimer’s disease
  1. R Huang1,
  2. J Huang1,
  3. H Cathcart1,
  4. S Smith2,
  5. S E Poduslo1,3
  1. 1Institute of Molecular Medicine and Genetics, Augusta, Georgia, USA
  2. 2Department of Neurology, Medical College of Georgia, Augusta, Georgia, USA
  3. 3VA Medical Center, Augusta, Georgia, USA
  1. Correspondence to:
 Dr S E Poduslo
 Medical College of Georgia, IMMAG, 1120 15th Street, Augusta, GA 30912, USA; spoduslo{at}


Background: Alzheimer’s disease is complex, with variants in multiple genes contributing to interactions increasing risk for the disease. Brain-derived neurotrophic factor (BDNF) promotes neuronal survival and modulates hippocampal-dependent memory.

Methods: We examined 11 SNPs that spanned the gene on chromosome 11p14 in 220 Alzheimer’s patients and 128 control spouses.

Results: Not all of the SNPs were informative, due to minor allele frequencies of <2%. Neither C270T nor two SNPs that reside proximal to exon V had significant association with the disease. However, we did find that the heterozygous form of the rs6265 SNP (Val66Met), as well as the diplotype of three SNPs (rs6265, rs11030104, rs2049045; H1-GTC/H2-ACG) all were highly significant in APOE 4 non-carriers (OR = 2.734; p = 0.0096).

Conclusion: The combination of the diplotypes for three SNPs exhibited significant p values for Alzheimer’s APOE 4 non-carriers. The two SNPs (rs11030104 and rs2049045) are found between exons VI and VII, while the Val66Met polymorphism is located in the coding exon VIII; the total distance for the three SNPs is 14308 bp. Whether the SNPs are involved with alternative splicing of the VII/VIII transcript is of considerable interest.

  • APOE, apolipoprotein E
  • BDNF, brain-derived neurotrophic factor
  • Alzheimer’s disease
  • brain-derived neurotrophic factor

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  • This research was supported by MCG start-up funds and by a cooperative agreement grant U24AG21886 from the National Institute of Aging for the National Cell Repository.

  • Competing interests: None declared.