Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology

Mol Cell Probes. 2016 Dec;30(6):397-403. doi: 10.1016/j.mcp.2016.09.001. Epub 2016 Sep 13.


Late-onset Alzheimer's disease (AD), the most common neurodegenerative disorder in western countries, is clinically defined by progressive worsening in cognitive functions along with function and behavioral impairment. This ultimately results in complete incapacity and death. AD is a clinically and pathologically heterogeneous disease, and this is reflected by the numerous genetic findings that point to several diverse molecular mechanisms and pathways. Linkage, genome-wide association and next-generation sequencing studies have led to the identification of more than 20 novel susceptibility loci for AD. While these observations have significantly increased the knowledge of pathogenic mechanisms and potential therapeutic targets, a large part of the genetic component underlying AD is still unexplained. This review will summarize and discuss the major genetic findings and their potential impact on AD diagnosis and prediction of prognosis.

Keywords: Alzheimer's disease; Epidemiology of neurodegenerative disorders; Genetics; Genome-wide association study; High-throughput technologies; Rare variants.

Publication types

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

MeSH terms

  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • DNA Copy Number Variations
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study / methods*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Mutation