title: Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans.
abstract: The role of the Alzheimer's Disease Neuroimaging Initiative Genetics Core is to facilitate the investigation of genetic influences on disease onset and trajectory as reflected in structural, functional, and molecular imaging changes; fluid biomarkers; and cognitive status. Major goals include (1) blood sample processing, genotyping, and dissemination, (2) genome-wide association studies (GWAS) of longitudinal phenotypic data, and (3) providing a central resource, point of contact and planning group for genetics within the Alzheimer's Disease Neuroimaging Initiative. Genome-wide array data have been publicly released and updated, and several neuroimaging GWAS have recently been reported examining baseline magnetic resonance imaging measures as quantitative phenotypes. Other preliminary investigations include copy number variation in mild cognitive impairment and Alzheimer's disease and GWAS of baseline cerebrospinal fluid biomarkers and longitudinal changes on magnetic resonance imaging. Blood collection for RNA studies is a new direction. Genetic studies of longitudinal phenotypes hold promise for elucidating disease mechanisms and risk, development of therapeutic strategies, and refining selection criteria for clinical trials.
authors.affiliation: Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine, Indianapolis, IN, USA. asaykin@iupui.edu
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Saykin
authors.forename: Li
authors.initials: L
authors.lastname: Shen
authors.forename: Tatiana M
authors.initials: TM
authors.lastname: Foroud
authors.forename: Steven G
authors.initials: SG
authors.lastname: Potkin
authors.forename: Shanker
authors.initials: S
authors.lastname: Swaminathan
authors.forename: Sungeun
authors.initials: S
authors.lastname: Kim
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Risacher
authors.forename: Kwangsik
authors.initials: K
authors.lastname: Nho
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Huentelman
authors.forename: David W
authors.initials: DW
authors.lastname: Craig
authors.forename: Paul M
authors.initials: PM
authors.lastname: Thompson
authors.forename: Jason L
authors.initials: JL
authors.lastname: Stein
authors.forename: Jason H
authors.initials: JH
authors.lastname: Moore
authors.forename: Lindsay A
authors.initials: LA
authors.lastname: Farrer
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
authors.forename: Lars
authors.initials: L
authors.lastname: Bertram
authors.forename: Clifford R
authors.initials: CR
authors.lastname: Jack
authors.forename: Michael W
authors.initials: MW
authors.lastname: Weiner
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics*; D015415:Biomarkers / Q000134:cerebrospinal fluid / Q000378:metabolism*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics; D003952:Diagnostic Imaging; D018450:Disease Progression; D019788:Fluorodeoxyglucose F18; D005786:Gene Expression Regulation / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D035683:MicroRNAs / Q000235:genetics; D034041:Monomeric Clathrin Assembly Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D019275:Radiopharmaceuticals
chemical_list: D015415:Biomarkers; D035683:MicroRNAs; D034041:Monomeric Clathrin Assembly Proteins; C439003:PICALM protein, human; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18
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