title: Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
abstract: Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted to identify SNPs that influence disease predisposition. These studies have confirmed the well-known APOE epsilon4 risk allele, identified a novel variant that influences disease risk within the APOE epsilon4 population, found a SNP that modifies the age of disease onset, as well as reported the first sex-linked susceptibility variant. Here we report a genome-wide scan of Alzheimer's disease in a set of 331 cases and 368 controls, extending analyses for the first time to include assessments of copy number variation. In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation.
authors.affiliation: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA. e.heinzen@duke.edu
authors.forename: Erin L
authors.initials: EL
authors.lastname: Heinzen
authors.forename: Anna C
authors.initials: AC
authors.lastname: Need
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Hayden
authors.forename: Ornit
authors.initials: O
authors.lastname: Chiba-Falek
authors.forename: Allen D
authors.initials: AD
authors.lastname: Roses
authors.forename: Warren J
authors.initials: WJ
authors.lastname: Strittmatter
authors.forename: James R
authors.initials: JR
authors.lastname: Burke
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hulette
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Welsh-Bohmer
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D053327:Apolipoprotein E4 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D053327:Apolipoprotein E4