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Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans
Author(s) -
Saykin Andrew J.,
Shen Li,
Foroud Tatiana M.,
Potkin Steven G.,
Swaminathan Shanker,
Kim Sungeun,
Risacher Shan L.,
Nho Kwangsik,
Huentelman Matthew J.,
Craig David W.,
Thompson Paul M.,
Stein Jason L.,
Moore Jason H.,
Farrer Lindsay A.,
Green Robert C.,
Bertram Lars,
Jack Clifford R.,
Weiner Michael W.
Publication year - 2010
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2010.03.013
Subject(s) - genome wide association study , neuroimaging , alzheimer's disease neuroimaging initiative , imaging genetics , disease , alzheimer's disease , neuroscience , genetic association , medicine , psychology , biology , genetics , pathology , genotype , single nucleotide polymorphism , gene
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.