PMID- 17293537
OWN - NLM
STAT- MEDLINE
DCOM- 20070607
LR  - 20181113
IS  - 1468-6244 (Electronic)
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 44
IP  - 2
DP  - 2007 Feb
TI  - Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's 
      disease.
PG  - e66
AB  - 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.
FAU - Huang, R
AU  - Huang R
AD  - Institute of Molecular Medicine and Genetics, Augusta, Georgia, USA.
FAU - Huang, J
AU  - Huang J
FAU - Cathcart, H
AU  - Cathcart H
FAU - Smith, S
AU  - Smith S
FAU - Poduslo, S E
AU  - Poduslo SE
LA  - eng
GR  - U24 AG021886/AG/NIA NIH HHS/United States
GR  - U24AG21886/AG/NIA NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Brain-Derived Neurotrophic Factor)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Alzheimer Disease/epidemiology/*genetics/pathology
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - Cerebral Cortex/pathology
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - *Genetic Variation
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Odds Ratio
MH  - Polymorphism, Single Nucleotide
MH  - Reference Values
MH  - Risk Assessment
PMC - PMC2598055
COIS- Competing interests: None declared.
EDAT- 2007/02/13 09:00
MHDA- 2007/06/08 09:00
PMCR- 2010/02/01
CRDT- 2007/02/13 09:00
PHST- 2007/02/13 09:00 [pubmed]
PHST- 2007/06/08 09:00 [medline]
PHST- 2007/02/13 09:00 [entrez]
PHST- 2010/02/01 00:00 [pmc-release]
AID - 44/2/e66 [pii]
AID - mg44883 [pii]
AID - 10.1136/jmg.2006.044883 [doi]
PST - ppublish
SO  - J Med Genet. 2007 Feb;44(2):e66. doi: 10.1136/jmg.2006.044883.