The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease

Alzheimer's disease (AD) pathology is characterized by beta -amyloid plaque s and neurofibrillary tangles. Studies of autosomal dominant early-onset AD mutations suggest that beta -amyloid overproduction is sufficient to cause AD. Recently, the BACE gene. which encodes beta -secretase, the rate limit ing enzyme in beta -amyloid formation. has been identified. Since this gene is a strong candidate gene for late-onset AD because of its function, we h ave characterized its genomic organization and identified two polymorphisms . Neither of these polymorphisms were associated with AD risk in generic as sociation studies comparing autopsy-confirmed late-onset AD cases and age-m atched non-demented controls. Thus, we find no evidence that this locus inf luences risk for late-onset AD. NeuroReport 12:631-634 (C) 2001 Lippincott Williams & Wilkins.