New frontiers in Alzheimer's disease genetics

Neuron. 2001 Oct 25;32(2):181-4. doi: 10.1016/s0896-6273(01)00476-7.


Alzheimer's disease (AD) is a genetically complex disorder that accounts for the majority of dementia in the elderly population. Over 100 rare, highly penetrant mutations have been described in three genes (APP, PSEN1, PSEN2) for early-onset familial AD. In the more common late-onset form, a polymorphism in the apolipoprotein E gene has been associated with increased susceptibility. However, recent studies suggest that these four genes account for less than 30% of the genetic variance for AD and that more genetic factors remain to be identified. In this review, we present a brief history of AD genetics and preview some of the next frontiers in Alzheimer gene discovery primarily focusing on chromosomes 12, 10, and 9.

Publication types

  • Review

MeSH terms

  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / biosynthesis
  • Amyloid beta-Protein Precursor / genetics
  • Animals
  • Apolipoproteins E / genetics
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 9
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Presenilin-1
  • Presenilin-2


  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Apolipoproteins E
  • Membrane Proteins
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2