Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.

Détails

ID Serval
serval:BIB_C07E70734BBA
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.
Périodique
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Auteur(s)
Gold G., Blouin J.L., Herrmann F.R., Michon A., Mulligan R., Duriaux Saïl G., Bouras C., Giannakopoulos P., Antonarakis S.E.
ISSN
1552-4841
Statut éditorial
Publié
Date de publication
2003
Peer-reviewed
Oui
Volume
119B
Numéro
1
Pages
44-47
Langue
anglais
Résumé
Alzheimer disease (AD) is characterized neuropathologically by neurofibrillary tangles and senile plaques. A key component of plaques is A beta, a polypeptide derived from A beta-precursor protein (APP) through proteolytic cleavage catalyzed by beta and gamma-secretase. We hypothesized that sequence variation in genes BACE1 (on chromosome 11q23.3) and BACE2 (on chromosome 21q22.3), which encode two closely related proteases that seem to act as the APP beta-secretase, may represent a genetic risk factor for AD. We analyzed the frequencies of single nucleotide polymorphisms (SNPs) in BACE1 and BACE2 genes in a community-based sample of 96 individuals with late-onset AD and 170 controls selected randomly among residents of the same community. The genotype data in both study groups did not demonstrate any association between AD and BACE1 or BACE2. After stratification for APOE status, however, an association between a BACE1 polymorphism located within codon V262 and AD in APOE epsilon 4 carriers was observed (P = 0.03). We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone.
Mots-clé
Alzheimer Disease, Amyloid Precursor Protein Secretases, Apolipoprotein E4, Apolipoproteins E, Aspartic Endopeptidases, Case-Control Studies, Endopeptidases, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Heterozygote, Humans, Male, Polymorphism, Single Nucleotide
Pubmed
Web of science
Création de la notice
10/03/2008 12:04
Dernière modification de la notice
03/03/2018 21:06
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