Copy Number Variants in Alzheimer's Disease

Alzheimer's disease (AD) is adevastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD. In the last years, in particular, new developments in genome-wide scanning methodologies have enabled the association of anumber of previously uncharacterized copy number variants (CNVs, gain or loss of DNA) in AD. Because of the exceedingly large number of studies performed, it has become difficult for geneticists as well as clinicians to systematically follow, evaluate, and interpret the growing number of (sometime conflicting) CNVs implicated in AD. In this review, after abrief introduction of this type of structural variation, and adescription of available databases, computational analyses, and technologies involved, we provide asystematic review of all published data showing statistical and scientific significance of pathogenic CNVs and discuss the role they might playinAD.