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dc.contributor.authorCalero, Miguel 
dc.contributor.authorGómez-Ramos, Alberto
dc.contributor.authorCalero, Olga 
dc.contributor.authorSoriano, Eduardo
dc.contributor.authorAvila, Jesús
dc.contributor.authorMedina, Miguel
dc.date.accessioned2020-04-22T16:09:05Z
dc.date.available2020-04-22T16:09:05Z
dc.date.issued2015
dc.identifier.citationFront Cell Neurosci. 2015 Apr 9;9:138.es_ES
dc.identifier.issn1662-5102es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/9686
dc.description.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 β peptide. 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 genome-wide 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.es_ES
dc.description.sponsorshipThis work was supported by CIBERNED, CIEN and Reina Sofia Foundations and the Carlos III Health Institute (PI12/00045).es_ES
dc.language.isoenges_ES
dc.publisherFrontiers Media es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectAlzheimeres_ES
dc.subjectGWASes_ES
dc.subjectEpistasises_ES
dc.subjectExomees_ES
dc.subjectNeurodegenerationes_ES
dc.subjectRare variantses_ES
dc.subjectRisk factorses_ES
dc.subjectSomatic mutationses_ES
dc.titleAdditional mechanisms conferring genetic susceptibility to Alzheimer's diseasees_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.pubmedID25914626es_ES
dc.format.volume9es_ES
dc.format.page138es_ES
dc.identifier.doi10.3389/fncel.2015.00138es_ES
dc.contributor.funderInstituto de Salud Carlos III 
dc.description.peerreviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.3389/fncel.2015.00138es_ES
dc.identifier.journalFrontiers in cellular neurosciencees_ES
dc.repisalud.centroISCIII::Unidad Funcional de Investigación de Enfermedades Crónicas (UFIEC)es_ES
dc.repisalud.institucionISCIIIes_ES
dc.relation.projectIDinfo:eu_repo/grantAgreement/ES/PI12/00045es_ES
dc.rights.accessRightsopen accesses_ES


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Atribución 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución 4.0 Internacional