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

J Alzheimers Dis. 2010;19(1):69-77. doi: 10.3233/JAD-2010-1212.

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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apolipoprotein E4 / genetics
  • DNA Copy Number Variations / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation / genetics*
  • Genome-Wide Association Study* / methods
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Young Adult

Substances

  • Apolipoprotein E4