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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease

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dc.creatorVélez, Jorge I.spa
dc.creatorRivera, Doraspa
dc.creatorMastronardi, Claudio A.spa
dc.creatorPatel, Hardip R.spa
dc.creatorTobón, Carlosspa
dc.creatorVillegas, Andrésspa
dc.creatorCai, Yepingspa
dc.creatorEasteal, Simonspa
dc.creatorLopera, Franciscospa
dc.creatorArcos-Burgos, Mauriciospa
dc.date.accessioned2020-08-19T14:42:48Z
dc.date.available2020-08-19T14:42:48Z
dc.date.created2016-01-05spa
dc.description.abstractWe previously reported age of onset (AOO) modifier genes in the world’s largest pedigree segregating early-onset Alzheimer’s disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those AOO modifier genes in sixty individuals with PSEN1 E280A AD who were whole-exome genotyped for ~250,000 variants. Standard quality control, filtering, and annotation for functional variants were applied, and common functional variants located in those previously reported as AOO modifier loci were selected. Multiloci linear mixed-effects models were used to test the association between these variants and AOO. An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10?4, PFDR = 9.34 × 10?3) was found to modify AOO in PSEN1 E280A AD. Nominal associations of missense mutations in the CLUAP1 (rs9790, P = 7.63 × 10?3, PFDR = 0.1832) and EXOC2 (rs17136239, P = 0.0325, PFDR = 0.391) genes were also found. Previous studies have linked polymorphisms in the DAOA gene with the occurrence of neuropsychiatric symptoms such as depression, apathy, aggression, delusions, hallucinations, and psychosis in AD. Our findings strongly suggest that this new conspicuous functional AOO modifier within the G72 (DAOA) gene could be pivotal for understanding the genetic basis of ADeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1155/2016/9760314
dc.identifier.issnISSN: 2090-5904
dc.identifier.issnEISSN: 1687-5443
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/27575
dc.language.isoengspa
dc.publisherHindawispa
dc.relation.citationTitleNeural Plasticity; Special Issue Neural Plasticity in Obesity and Psychiatric Disorders
dc.relation.citationVolumeVol. 2016
dc.relation.ispartofNeural Plasticity; Special Issue Neural Plasticity in Obesity and Psychiatric Disorders, ISSN: 2090-5904; EISSN: 1687-5443 , Vol.2016, Article ID 9760314 (December, 2015); 7 pp. spa
dc.relation.urihttps://www.hindawi.com/journals/np/2016/9760314/spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.sourceNeural Plasticity; Special Issue Neural Plasticity in Obesity and Psychiatric Disordersspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordA Mutationspa
dc.subject.keywordDAOA Modifiesspa
dc.subject.keywordAge of Onsetspa
dc.subject.keywordPSEN1 E280Aspa
dc.subject.keywordAlzheimer’s Diseasespa
dc.titleA Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Diseasespa
dc.title.TranslatedTitleUna mutación en DAOA modifica la edad de inicio en la enfermedad de Alzheimer PSEN1 E280Aspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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