Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
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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.
Aged, 80 and over
DNA Copy Number Variations
Genetic Predisposition to Disease
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Published Version (Please cite this version)10.3233/JAD-2010-1212
Publication InfoHeinzen, Erin L; Need, Anna C; Hayden, Kathleen M; Chiba-Falek, Ornit; Roses, Allen D; Strittmatter, Warren J; ... Goldstein, David B (2010). Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis, 19(1). pp. 69-77. 10.3233/JAD-2010-1212. Retrieved from https://hdl.handle.net/10161/4614.
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