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Title

Additional mechanisms conferring genetic susceptibility to Alzheimer’s disease

AuthorsCalero, Miguel; Gómez Ramos, Alberto; Calero-Rueda, Olga; Soriano, Eduardo; Ávila, Jesús ; Medina, Miguel
Issue Date9-Apr-2015
PublisherFrontiers Media
CitationFrontiers in Cellular Neuroscience 9: 138 (2015)
AbstractFamilial Alzheimer’s disease (AD), mostly associated with early onset, is caused by mutations in three genes (APP, PSEN1, and PSEN2) involved in the production of the amyloid βpeptide. In contrast, the molecular mechanisms that trigger the most common late onset sporadic AD remain largely unknown. With the implementation of an increasing number of case-control studies and the upcoming of large-scale genomewide association studies there is a mounting list of genetic risk factors associated with common genetic variants that have been associated with sporadic AD. Besides apolipoprotein E, that presents a strong association with the disease (OR~4), the rest of these genes have moderate or low degrees of association, with OR ranging from 0.88 to 1.23. Taking together, these genes may account only for a fraction of the attributable AD risk and therefore, rare variants and epistastic gene interactions should be taken into account in order to get the full picture of the genetic risks associated with AD. Here, we review recent whole-exome studies looking for rare variants, somatic brain mutations with a strong association to the disease, and several studies dealing with epistasis as additional mechanisms conferring genetic susceptibility to AD. Altogether, recent evidence underlines the importance of defining molecular and genetic pathways, and networks rather than the contribution of specific genes.
URIhttp://hdl.handle.net/10261/124080
DOI10.3389/fncel.2015.00138
Identifiersdoi: 10.3389/fncel.2015.00138
issn: 1662-5102
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