Alzheimer's disease genetics: from the bench to the clinic

Celeste M Karch; Carlos Cruchaga; Alison M Goate

doi:10.1016/j.neuron.2014.05.041

Alzheimer's disease genetics: from the bench to the clinic

Neuron. 2014 Jul 2;83(1):11-26. doi: 10.1016/j.neuron.2014.05.041.

Authors

Celeste M Karch¹, Carlos Cruchaga¹, Alison M Goate²

Affiliations

¹ Department of Psychiatry and Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA.
² Department of Psychiatry and Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: goatea@psychiatry.wustl.edu.

Abstract

Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. Several genes have been associated with AD risk for nearly 20 years. However, it was not until the recent technological advances that allow for the analysis of millions of polymorphisms in thousands of subjects that we have been able to advance our understanding of the genetic complexity of AD susceptibility. Genome-wide association studies and whole-exome and whole-genome sequencing have revealed more than 20 loci associated with AD risk. These studies have provided insights into the molecular pathways that are altered in AD pathogenesis, which have, in turn, provided insight into novel therapeutic targets.

Publication types

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

MeSH terms

Alzheimer Disease / diagnosis*
Alzheimer Disease / genetics*
Alzheimer Disease / therapy
Animals
Case-Control Studies
Genetic Predisposition to Disease / genetics*
Genetic Variation / genetics*
Humans
Pharmacogenetics / trends*

Abstract

Publication types

MeSH terms

Grants and funding