Alzheimer's Disease and Gene Discovery on Chromosome 9

DESCRIPTION (provided by applicant): Identifying the four genes [amyloid precursor protein, presenilin I and 2 and apolipoprotein El already associated with Alzheimer disease (AD) has opened new avenues of research and greatly enhanced our understanding of this common and complex disease. Still our understanding of the genetic basis of AD is far from complete. Nearly half of the genetic effect has not been explained. Our recently completed Collaborative Alzheimer Project (CAP) genomic screen, in the largest set of AID families to date (455 families, 726 sibpairs), identified a novel gene localization to 9p21 (MLOD = 3.43; MLS = 3.31 in the overall dataset and MLOD = 3.94; MLS = 4.41 in the subset of autopsy confirmed cases). Preliminary follow-up analyses have demonstrated an allelic association with several single nucleotide polymorphisms in this region (P