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dc.rights.licenseLicencia de Creative Commons Reconocimiento-NoComercial-CompartirIgual 4.0 Internacionalspa
dc.contributor.authorVélez, Jorge I.
dc.contributor.authorLopera, Francisco
dc.contributor.authorCreagh, Penelope K.
dc.contributor.authorPiñeros, Laura B.
dc.contributor.authorDas, Debjani
dc.contributor.authorCervantes-Henríquez, Martha L.
dc.contributor.authorAcosta-López, Johan E.
dc.contributor.authorIsaza – Ruget, Mario A.
dc.contributor.authorEspinosa, Lady G.
dc.contributor.authorEasteal, Simon
dc.contributor.authorQuintero, Gustavo A.
dc.contributor.authorTamar Silva, Claudia
dc.contributor.authorMastronardi, Claudio A.
dc.contributor.authorArcos-Burgos, Mauricio
dc.date.accessioned2018-09-06T13:59:18Z
dc.date.available2018-09-06T13:59:18Z
dc.date.issued2018-08
dc.identifier.issn591182
dc.identifier.urihttp://hdl.handle.net/20.500.12442/2272
dc.description.abstractBackground: The identification of novel genetic variants contributing to the widespread in the age of onset (AOO) of Alzheimer’s disease (AD) could aid in the prognosis and/or development of new therapeutic strategies focused on early interventions. Methods: We recruited 78 individuals with AD from the Paisa genetic isolate in Antioquia, Colombia. These individuals belong to the world largest multigenerational and extended pedigree segregating AD as a consequence of a dominant fully penetrant mutation in the PSEN1 gene and exhibit an AOO ranging from the early 30s to the late 70s. To shed light on the genetic underpinning that could explain the large spread of the age of onset (AOO) of AD, 64 single nucleotide polymorphisms (SNP) associated with neuroanatomical, cardiovascular and cognitive measures in AD were genotyped. Standard quality control and filtering procedures were applied, and single- and multi-locus linear mixed-effects models were used to identify AOO associated SNPs. A full two-locus interaction model was fitted to define how identified SNPs interact to modulate AOO. Results: We identified two key epistatic interactions between the APOE*E2 allele and SNPs ASTN2-rs7852878 and SNTG1-rs16914781 that delay AOO by up to ~8 years (95%CI: 3.2-12.7, P=1.83x10-3) and ~7.6 years (95%CI: 3.3-11.8, P = 8.69x10-4), respectively, and validated our previous finding indicating that APOE*E2 delays AOO of AD in PSEN1 E280 mutation carriers. Discussion: This new evidence involving APOE*E2 as an AOO delayer could be used for developing precision medicine approaches and predictive genomics models to potentially determine AOO in individuals genetically predisposed to AD.eng
dc.language.isoengeng
dc.publisherSpringerLinkeng
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceMolecular Neurobiologyeng
dc.sourceVol. 55, No.12035 (2018)eng
dc.subjectAlzheimer's diseaseeng
dc.subjectAPOE*E2eng
dc.subjectAge of Onseteng
dc.subjectASTN2eng
dc.subjectGenetic Isolateeng
dc.subjectPSEN1eng
dc.subjectExtreme phenotypeseng
dc.subjectSNTG1eng
dc.titleTargeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer’s Diseaseeng
dc.typearticleeng
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