Association studies using novel polymorphisms in BACE1 and BACE2

The release of amyloid-β peptide (Aβ) from β-amyloid precursor protein (APP) requires cleavage by β- and γ-secretases. Several groups have identified a candidate for the β-site APP-cleaving enzyme, BACE1, and its homologue BACE2. We sequenced the genes for BACE1 and BACE2 and found several polymorphisms in both genes. Genotyping a large cohort of AD cases and controls has shown no association between AD and the intronic polymorphism in BACE2 while there was a weak association between the BACE1 polymorphism in exon 5 and AD in those carrying the APOE ε4 allele.