UNIGE document Scientific Article
previous document  unige:8759  next document
add to browser collection

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

Authors show hidden authors show all authors [1 - 9]
Published in American Journal of Medical Genetics. B. 2003, vol. 119B, no. 1, p. 44-47
Abstract 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.
Keywords Alzheimer Disease/etiology/ geneticsAmyloid Precursor Protein SecretasesApolipoprotein E4Apolipoproteins E/ geneticsAspartic Acid Endopeptidases/ geneticsCase-Control StudiesEndopeptidasesFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHeterozygoteHumansMalePolymorphism, Single Nucleotide
PMID: 12707937
Full text
Article - document accessible for UNIGE members only Limited access to UNIGE
(ISO format)
GOLD, Gabriel et al. Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers. In: American Journal of Medical Genetics. B, 2003, vol. 119B, n° 1, p. 44-47. doi: 10.1002/ajmg.b.10010 https://archive-ouverte.unige.ch/unige:8759

413 hits

1 download


Deposited on : 2010-07-12

Export document
Format :
Citation style :