2022
Unified epigenomic, transcriptomic, proteomic, and metabolomic taxonomy of Alzheimer’s disease progression and heterogeneity
Iturria-Medina Y, Adewale Q, Khan A, Ducharme S, Rosa-Neto P, O'Donnell K, Petyuk V, Gauthier S, De Jager P, Breitner J, Bennett D. Unified epigenomic, transcriptomic, proteomic, and metabolomic taxonomy of Alzheimer’s disease progression and heterogeneity. Science Advances 2022, 8: eabo6764. PMID: 36399579, PMCID: PMC9674284, DOI: 10.1126/sciadv.abo6764.Peer-Reviewed Original ResearchConceptsMolecular taxonomy of ADAlzheimer's diseaseMolecular dataAlzheimer's disease progressionGenetic variationDNA methylationPattern of alterationsAD dementia progressionAD variantsCell typesPostmortem brainsHeterogeneous disorderBiological domainSpatial pattern of alterationAlzheimerClinical heterogeneityTaxonomyAD subtypesMetabolomic profilesSpatial patternsMolecular indicesAdvanced machine learning analysisDisease progressionRNADNA
2019
A biologically-informed polygenic score identifies endophenotypes and clinical conditions associated with the insulin receptor function on specific brain regions
Dass S, McCracken K, Pokhvisneva I, Chen LM, Garg E, Nguyen TTT, Wang Z, Barth B, Yaqubi M, McEwen LM, MacIsaac JL, Diorio J, Kobor MS, O'Donnell KJ, Meaney MJ, Silveira PP. A biologically-informed polygenic score identifies endophenotypes and clinical conditions associated with the insulin receptor function on specific brain regions. EBioMedicine 2019, 42: 188-202. PMID: 30922963, PMCID: PMC6491717, DOI: 10.1016/j.ebiom.2019.03.051.Peer-Reviewed Original ResearchMeSH KeywordsBrainEndophenotypesFemaleGene Expression ProfilingGene Expression RegulationGene Regulatory NetworksGenetic Association StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyHippocampusHumansMalePhenotypePolymorphism, Single NucleotideReceptor, InsulinReproducibility of ResultsConceptsCognitive performancePolygenic scoresRelated mental disordersChild impulsivityIndividual differencesSpecific brain regionsInhibitory controlNeurobiological mechanismsCommunity sampleBrain regionsConventional GWASMesocorticolimbic systemImpulsivityMental disordersPsychopathologyAddictionNeural functionEndophenotypesAlzheimer's diseaseScoresADHDDisordersMemoryFunctioningGenetic score