PMID- 15843069
OWN - NLM
STAT- MEDLINE
DCOM- 20050624
LR  - 20221207
IS  - 0304-3940 (Print)
IS  - 0304-3940 (Linking)
VI  - 379
IP  - 3
DP  - 2005 May 13
TI  - Investigation of the effect of brain-derived neurotrophic factor (BDNF) 
      polymorphisms on the risk of late-onset Alzheimer's disease (AD) and quantitative 
      measures of AD progression.
PG  - 229-34
AB  - BDNF is a functional candidate gene for AD, owing to its role in neuronal 
      development and survival. The Val66Met (G196A), along with another C270T 
      polymorphism has been associated with AD, however, the effects seem to be 
      inconsistent across studies. We examined the association of the G196A and C270T 
      polymorphisms with sporadic late-onset AD (LOAD) in a large American White cohort 
      of 995 AD cases and 671 controls and an American Black cohort of 64 AD cases and 
      45 controls. We also examined the association of these polymorphisms with 
      quantitative measures of AD progression, including age at onset (AAO), disease 
      duration and Mini-Mental State Examination (MMSE) scores. No significant 
      difference in allele, genotype or estimated haplotype frequencies was observed 
      between AD cases and controls within the American White and Black cohorts for the 
      G196A and C270T polymorphisms. However, the frequency of the 196*A allele was 
      significantly lower in American Black subjects compared to Whites. While MMSE 
      scores were significantly lower in C270T/CT carriers compared to C270T/CC 
      subjects only among American Blacks, no such effect was observed among American 
      Whites. The BDNF polymorphisms did not affect AAO or disease duration measures in 
      American Whites or Blacks. Our finding does not support any association between 
      the BDNF/G196A or C270T polymorphism and the risk of sporadic LOAD among American 
      Whites or Blacks. The significant effect of the C270T polymorphism observed on 
      MMSE scores among American Blacks needs to be further explored in a larger 
      cohort.
FAU - Desai, Purnima
AU  - Desai P
AD  - Department of Human Genetics, University of Pittsburgh, 624 Parran Hall, 130 
      Desoto Street, Pittsburgh, PA 15261, USA.
FAU - Nebes, Robert
AU  - Nebes R
FAU - DeKosky, Steven T
AU  - DeKosky ST
FAU - Kamboh, M Ilyas
AU  - Kamboh MI
LA  - eng
GR  - AG 05133/AG/NIA NIH HHS/United States
GR  - AG 07562/AG/NIA NIH HHS/United States
GR  - AG 13672/AG/NIA NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20050126
PL  - Ireland
TA  - Neurosci Lett
JT  - Neuroscience letters
JID - 7600130
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Alzheimer Disease/*genetics
MH  - Black People/genetics
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - Case-Control Studies
MH  - Disease Progression
MH  - Female
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Methionine/genetics
MH  - *Polymorphism, Genetic
MH  - *Risk
MH  - Valine/genetics
MH  - White People/genetics
EDAT- 2005/04/22 09:00
MHDA- 2005/06/25 09:00
CRDT- 2005/04/22 09:00
PHST- 2004/12/17 00:00 [received]
PHST- 2004/12/27 00:00 [revised]
PHST- 2005/01/04 00:00 [accepted]
PHST- 2005/04/22 09:00 [pubmed]
PHST- 2005/06/25 09:00 [medline]
PHST- 2005/04/22 09:00 [entrez]
AID - S0304-3940(05)00030-3 [pii]
AID - 10.1016/j.neulet.2005.01.008 [doi]
PST - ppublish
SO  - Neurosci Lett. 2005 May 13;379(3):229-34. doi: 10.1016/j.neulet.2005.01.008. Epub 
      2005 Jan 26.