Copy Number Variants in Alzheimer's Disease.
Alzheimer's disease (AD) is a devastating 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 a number 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 a brief introduction of this type of structural variation, and a description of available databases, computational analyses, and technologies involved, we provide a systematic review of all published data showing statistical and scientific significance of pathogenic CNVs and discuss the role they might play in AD.
Institute of Neurological Sciences, National Research Council, Section of Catania, Italy.
Denis
D
Cuccaro
Institute of Neurological Sciences, National Research Council, Section of Mangone, Italy.
Elvira Valeria
EV
De Marco
Institute of Neurological Sciences, National Research Council, Section of Mangone, Italy.
Rita
R
Cittadella
Institute of Neurological Sciences, National Research Council, Section of Catania, Italy.|Institute of Neurological Sciences, National Research Council, Section of Mangone, Italy.
Sebastiano
S
Cavallaro
D000544:Alzheimer Disease / Q000235:genetics*; D000818:Animals; D056915:DNA Copy Number Variations; D006801:Humans
Alzheimer’s disease; comparative genomic hybridization; copy number variations; gene expression; genome; genome wide association studies; mutation
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