No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

Emilio Di Maria, Antonella Marasco, Marzia Tartari, Paola Ciotti, Giovanni Abbruzzese, Giuseppe Novelli, Emilia Bellone, Elena Cattaneo, Paola Mandich

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)274-279
Number of pages6
JournalNeurobiology of Disease
Volume24
Issue number2
DOIs
Publication statusPublished - Nov 2006

Fingerprint

Huntington Disease
Brain-Derived Neurotrophic Factor
Age of Onset
Genes
Transcriptional Silencer Elements
Neurodegenerative Diseases
Chromosomes
Genotype
Phenotype
Neurons

Keywords

  • Age-at-onset
  • BDNF
  • Genetic modifiers
  • Huntington's disease
  • Regression analysis
  • Val66Met polymorphism

ASJC Scopus subject areas

  • Neurology

Cite this

Di Maria, E., Marasco, A., Tartari, M., Ciotti, P., Abbruzzese, G., Novelli, G., ... Mandich, P. (2006). No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. Neurobiology of Disease, 24(2), 274-279. https://doi.org/10.1016/j.nbd.2006.07.002

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. / Di Maria, Emilio; Marasco, Antonella; Tartari, Marzia; Ciotti, Paola; Abbruzzese, Giovanni; Novelli, Giuseppe; Bellone, Emilia; Cattaneo, Elena; Mandich, Paola.

In: Neurobiology of Disease, Vol. 24, No. 2, 11.2006, p. 274-279.

Research output: Contribution to journalArticle

Di Maria, E, Marasco, A, Tartari, M, Ciotti, P, Abbruzzese, G, Novelli, G, Bellone, E, Cattaneo, E & Mandich, P 2006, 'No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease', Neurobiology of Disease, vol. 24, no. 2, pp. 274-279. https://doi.org/10.1016/j.nbd.2006.07.002
Di Maria, Emilio ; Marasco, Antonella ; Tartari, Marzia ; Ciotti, Paola ; Abbruzzese, Giovanni ; Novelli, Giuseppe ; Bellone, Emilia ; Cattaneo, Elena ; Mandich, Paola. / No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. In: Neurobiology of Disease. 2006 ; Vol. 24, No. 2. pp. 274-279.
@article{157814b9193b46c9b3d85750c3731992,
title = "No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease",
abstract = "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.",
keywords = "Age-at-onset, BDNF, Genetic modifiers, Huntington's disease, Regression analysis, Val66Met polymorphism",
author = "{Di Maria}, Emilio and Antonella Marasco and Marzia Tartari and Paola Ciotti and Giovanni Abbruzzese and Giuseppe Novelli and Emilia Bellone and Elena Cattaneo and Paola Mandich",
year = "2006",
month = "11",
doi = "10.1016/j.nbd.2006.07.002",
language = "English",
volume = "24",
pages = "274--279",
journal = "Neurobiology of Disease",
issn = "0969-9961",
publisher = "Academic Press Inc.",
number = "2",

}

TY - JOUR

T1 - No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

AU - Di Maria, Emilio

AU - Marasco, Antonella

AU - Tartari, Marzia

AU - Ciotti, Paola

AU - Abbruzzese, Giovanni

AU - Novelli, Giuseppe

AU - Bellone, Emilia

AU - Cattaneo, Elena

AU - Mandich, Paola

PY - 2006/11

Y1 - 2006/11

N2 - 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.

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.

KW - Age-at-onset

KW - BDNF

KW - Genetic modifiers

KW - Huntington's disease

KW - Regression analysis

KW - Val66Met polymorphism

UR - http://www.scopus.com/inward/record.url?scp=33750209146&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33750209146&partnerID=8YFLogxK

U2 - 10.1016/j.nbd.2006.07.002

DO - 10.1016/j.nbd.2006.07.002

M3 - Article

C2 - 16905325

AN - SCOPUS:33750209146

VL - 24

SP - 274

EP - 279

JO - Neurobiology of Disease

JF - Neurobiology of Disease

SN - 0969-9961

IS - 2

ER -