Current Psychiatry Reports

, Volume 13, Issue 2, pp 138–146

Power and Pitfalls of the Genome-Wide Association Study Approach to Identify Genes for Alzheimer’s Disease


DOI: 10.1007/s11920-011-0184-4

Cite this article as:
Sherva, R. & Farrer, L.A. Curr Psychiatry Rep (2011) 13: 138. doi:10.1007/s11920-011-0184-4


Until recently, the search for genes contributing to Alzheimer’s disease (AD) had been slow and disappointing, with the notable exception of the APOE ε4 allele, which increases risk and reduces the age at onset of AD in a dose-dependent fashion. Findings from genome-wide association studies (GWAS) made up of fewer than several thousand cases and controls each have not been replicated. Efforts of several consortia—each assembling much larger datasets with sufficient power to detect loci conferring small changes in AD risk—have resulted in robust associations with many novel genes involved in multiple biological pathways. Complex data mining strategies are being used to identify additional members of these pathways and gene–gene interactions contributing to AD risk. Guided by GWAS results, next-generation sequencing and functional studies are under way with the hope of helping us better understand AD pathology and providing new drug targets.


Alzheimer’s diseaseGenome-wide association studyApolipoprotein EAlzheimer’s disease susceptibility genes

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Medicine (Biomedical Genetics)Boston University School of MedicineBostonUSA
  2. 2.Departments of Medicine (Biomedical Genetics), Neurology, Ophthalmology, Genetics and Genomics, Biostatistics, and EpidemiologyBoston University Schools of Medicine and Public Health, Biomedical Genetics L-320BostonUSA