Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
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.
Heinzen
Erin L
EL
Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA. e.heinzen@duke.edu
Need
Anna C
AC
Hayden
Kathleen M
KM
Chiba-Falek
Ornit
O
Roses
Allen D
AD
Strittmatter
Warren J
WJ
Burke
James R
JR
Hulette
Christine M
CM
Welsh-Bohmer
Kathleen A
KA
Goldstein
David B
DB
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
D053327:Apolipoprotein E4