Postgrad Med J doi:10.1136/postgradmedj-2011-130363
  • Review

Genetics and epigenetics of Alzheimer's disease

  1. Andrei Fagarasanu1
  1. 1Department of Medicine, University of Alberta, Alberta, Canada
  2. 2Department of Medicine, Queen's University, Ontario, Canada
  1. Correspondence to Dr Kannayiram Alagiakrishnan, B139N Clinical Sciences Building, 8440-112 Street, University of Alberta, Edmonton T6G 2G3, Alberta, Canada; kalagiakri{at}
  1. Contributors All authors contributed to the content and preparation of this manuscript.

  • Received 1 August 2011
  • Accepted 25 March 2012
  • Published Online First 29 April 2012


Alzheimer's disease (AD) is a highly prevalent condition that predominantly affects older adults. AD is a complex multifactorial disorder with a number of genetic, epigenetic and environmental factors which ultimately lead to premature neuronal death. Predictive and susceptibility genes play a role in AD. Early-onset familial AD is a rare autosomal dominant disorder. Genome-wide association studies have identified many potential susceptibility genes for late-onset AD, but the clinical relevance of many of these susceptibility genes is unclear. The genetic variation by susceptibility genes plays a crucial role in determining the risk of late-onset AD, as well as the onset of the disease, the course of the AD and the therapeutic response of patients to conventional drugs for AD. The newer understanding of the epigenetics in AD has also been highlighted. Recent advances in genetics, epigenetics and pharmacogenetics of AD pose new challenges to the future management of AD.


  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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