Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans

Andrew J. Saykin, Li Shen, Tatiana M. Foroud, Steven G. Potkin, Shanker Swaminathan, Sungeun Kim, Shannon L. Risacher, Kwangsik Nho, Matthew J. Huentelman, David W. Craig, Paul M. Thompson, Jason L. Stein, Jason H. Moore, Lindsay A. Farrer, Robert C. Green, Lars Bertram, Clifford R. Jack, Michael W. Weiner

Research output: Contribution to journalArticlepeer-review

246 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)265-273
Number of pages9
JournalAlzheimer's and Dementia
Issue number3
StatePublished - May 2010


  • Alzheimer's Disease Neuroimaging Initiative (ADNI)
  • Alzheimer's disease
  • Cerebrospinal fluid (CSF)
  • Copy number variation (CNV)
  • Genome-wide association studies (GWAS)
  • Magnetic resonance imaging (MRI)
  • Mild cognitive impairment (MCI)

ASJC Scopus subject areas

  • Clinical Neurology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience
  • Health Policy
  • Developmental Neuroscience
  • Epidemiology


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