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Mutations modifying sporadic Alzheimer's disease age of onset

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dc.creatorVélez, Jorge I.spa
dc.creatorLopera, Franciscospa
dc.creatorPatel, Hardip R.spa
dc.creatorJohar, Angad S.spa
dc.creatorCai, Yepingspa
dc.creatorRivera, Doraspa
dc.creatorTobón, Carlosspa
dc.creatorVillegas ,Andrésspa
dc.creatorSepulveda-Falla, Diegospa
dc.creatorLehmann, Shaun G.spa
dc.creatorEasteal, Simonspa
dc.creatorMastronardi, Claudio A.spa
dc.creatorArcos-Burgos, Mauriciospa
dc.date.accessioned2020-08-06T16:20:55Z
dc.date.available2020-08-06T16:20:55Z
dc.date.created2016-08-30spa
dc.description.abstractThe identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD. We identified more than 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the AOO. These variants are harbored in genes implicated in neuron apoptosis, neurogenesis, inflammatory processes linked to AD, oligodendrocyte differentiation, and memory processes. This set of new genes harboring these mutations could be of importance for prediction, follow-up and eventually as therapeutical targets of AD.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/ajmg.b.32493
dc.identifier.issnISSN: 1552-4841
dc.identifier.issnEISSN: 1552-485X
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/26192
dc.language.isoengspa
dc.publisherJohn Wiley and Sonsspa
dc.relation.citationEndPage1130
dc.relation.citationIssueNo. 8
dc.relation.citationStartPage1116
dc.relation.citationTitleAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
dc.relation.citationVolumeVol. 171
dc.relation.ispartofAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN:1552-4841; EISSN:1552-485X, Vol.171, No.8 (julio-diciembre, 2016); pp.1116-1130spa
dc.relation.urihttps://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32493spa
dc.rights.accesRightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.accesoRestringido (Acceso a grupos específicos)spa
dc.sourceAmerican Journal of Medical Genetics Part B: Neuropsychiatric Geneticsspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordAlzheimer's diseasespa
dc.subject.keywordE280A mutationspa
dc.subject.keywordG protein-coupled receptorsspa
dc.subject.keywordPSEN1spa
dc.subject.keywordAge of onsetspa
dc.subject.keywordExtreme phenotypesspa
dc.subject.keywordGenetic isolatesspa
dc.subject.keywordModifier genesspa
dc.subject.keywordWhole exome analysisspa
dc.titleMutations modifying sporadic Alzheimer's disease age of onsetspa
dc.title.TranslatedTitleMutaciones que modifican la edad de inicio de la enfermedad de Alzheimer esporádicaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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