Genetics of Alzheimer's disease. A rapidly evolving field

J Alzheimers Dis. 2007 Aug;12(1):73-92. doi: 10.3233/jad-2007-12108.

Abstract

Genetic factors have a variable impact on Alzheimer's Disease (AD), ranging from familial forms that are transmitted in an autosomal dominant fashion to sporadic AD, where a polygenic component is present. Most genes conferring susceptibility to AD are related to amyloid-beta deposition (APP; PS1; PS2; APOE; Cystatin-C; ubiquilin-1), oxidative stress (NOS2; NOS3) and inflammatory response (IL-1 alpha; IL-1 beta; IL-6; TNF-alpha). Genome-wide analyses, transcriptomics and proteomics approaches have pointed also to proapoptotic genes as increasing AD liability. Depression and psychotic symptoms that occur in a large proportion of AD patients have been associated with monoamine genes coding for metabolic enzymes (COMT), transporters (5-HTTLPR) and receptors (DRD1; DRD3). Genetic testing may be useful to confirm the diagnosis of AD in individuals with clinical signs of dementia, while it is generally not recommended as a predictive testing for AD in asymptomatic individuals. Drugs currently in use to treat AD are effective in only 20% of patients; their therapeutic effect is predominantly under genetic control (CYP26 gene; APOE). Environmental factors have been shown to moderate the effects of genes on psychiatric disorders such as depression, schizophrenia and ADHD. The study of gene-environment interactions in AD, that are still poorly understood, is essential to predict disease-risk in asymptomatic individuals. Genomics will provide a dynamic picture of biological processes in AD and new targets for the forthcoming anti-AD drugs.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / drug therapy
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Amyloid Precursor Protein Secretases / antagonists & inhibitors
  • Amyloid beta-Peptides / genetics
  • Apolipoprotein E4 / genetics
  • Cystatin C
  • Cystatins / genetics
  • Gene Expression / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Interleukin-1 / genetics
  • Interleukin-6 / genetics
  • Oxidative Stress / physiology
  • Tumor Necrosis Factor-alpha / genetics

Substances

  • Amyloid beta-Peptides
  • Apolipoprotein E4
  • CST3 protein, human
  • Cystatin C
  • Cystatins
  • Interleukin-1
  • Interleukin-6
  • Tumor Necrosis Factor-alpha
  • Amyloid Precursor Protein Secretases