Association studies using novel polymorphisms in BACE1 and BACE2

The release of amyloid-beta peptide (A beta) from beta -amyloid precursor protein (APP) requires cleavage by beta- and gamma -secretases. Several groups have identified a candidate for the beta -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 BAC1 polymorphism in exon 5 and AD in those carrying the APOE epsilon4 allele. NeuroReport 12:1799-1802 (C) 2001 Lippincott Williams & Wilkins.