Genome-wide scan of copy number variation in late-onset Alzheimer's disease.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Heinzen, EL; Need, AC; Hayden, KM; Chiba-Falek, O; Roses, AD; Strittmatter, WJ; Burke, JR; Hulette, CM; Welsh-Bohmer, KA; Goldstein, DB

Published Date

  • 2010

Published In

Volume / Issue

  • 19 / 1

Start / End Page

  • 69 - 77

PubMed ID

  • 20061627

Pubmed Central ID

  • 20061627

Electronic International Standard Serial Number (EISSN)

  • 1875-8908

Digital Object Identifier (DOI)

  • 10.3233/JAD-2010-1212


  • eng

Conference Location

  • Netherlands