PMID- 16905325
OWN - NLM
STAT- MEDLINE
DCOM- 20070123
LR  - 20220129
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 24
IP  - 2
DP  - 2006 Nov
TI  - No evidence of association between BDNF gene variants and age-at-onset of 
      Huntington's disease.
PG  - 274-9
AB  - Huntington's disease (HD) is a late-onset, autosomal dominant neurodegenerative 
      disease caused by a CAG trinucleotide expansion. The number of repeats on the HD 
      chromosome explains most of the variability in age of onset, but genetic factors 
      other than the HD gene are responsible for part of the residual variance. Based 
      on the role played by the brain derived neurotrophic factor (BDNF) in 
      neurodysfunction and neurodegeneration in HD, we searched for novel polymorphisms 
      in the neuron restrictive silencer element located in the BDNF promoter. Then, 
      the effect of the Val66Met variant in determining age of onset was tested in a 
      large sample of HD carriers by using a multivariate regression approach. The CAG 
      repeat number accounted for 62% of the variance. After correction for the 
      predominant effect of the CAG expansion, no multiple regression model provided 
      evidence of association between the Val66Met genotype and variation in 
      age-at-onset. Additional studies are warranted to further investigate BDNF as 
      genetic modifier of the HD phenotype.
FAU - Di Maria, Emilio
AU  - Di Maria E
AD  - Department of Neuroscience, Ophthalmology and Genetics, Section of Medical 
      Genetics, University of Genova, and Medical Genetics Unit, San Martino Hospital, 
      Genova, Italy. emilio.dimaria@unige.it
FAU - Marasco, Antonella
AU  - Marasco A
FAU - Tartari, Marzia
AU  - Tartari M
FAU - Ciotti, Paola
AU  - Ciotti P
FAU - Abbruzzese, Giovanni
AU  - Abbruzzese G
FAU - Novelli, Giuseppe
AU  - Novelli G
FAU - Bellone, Emilia
AU  - Bellone E
FAU - Cattaneo, Elena
AU  - Cattaneo E
FAU - Mandich, Paola
AU  - Mandich P
LA  - eng
GR  - GGP02215/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060814
PL  - United States
TA  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Amino Acid Substitution/genetics
MH  - Brain/metabolism/pathology/physiopathology
MH  - Brain-Derived Neurotrophic Factor/chemistry/*genetics/metabolism
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Testing
MH  - Genetic Variation/*genetics
MH  - Genotype
MH  - Humans
MH  - Huntington Disease/*epidemiology/*genetics/physiopathology
MH  - Male
MH  - Methionine/genetics
MH  - Middle Aged
MH  - Polymorphism, Genetic/*genetics
MH  - Promoter Regions, Genetic/genetics
MH  - Silencer Elements, Transcriptional/genetics
MH  - Trinucleotide Repeat Expansion/genetics
MH  - Valine/genetics
EDAT- 2006/08/15 09:00
MHDA- 2007/01/24 09:00
CRDT- 2006/08/15 09:00
PHST- 2006/05/19 00:00 [received]
PHST- 2006/07/03 00:00 [revised]
PHST- 2006/07/07 00:00 [accepted]
PHST- 2006/08/15 09:00 [pubmed]
PHST- 2007/01/24 09:00 [medline]
PHST- 2006/08/15 09:00 [entrez]
AID - S0969-9961(06)00164-1 [pii]
AID - 10.1016/j.nbd.2006.07.002 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2006 Nov;24(2):274-9. doi: 10.1016/j.nbd.2006.07.002. Epub 2006 
      Aug 14.