Alzheimer’s Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans
Open accessAbstract
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.
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SNPs in and around APOE, BIN1, SORL1, and CR1 have been associated with traits including medial temporal lobe atrophy and cortical thickness.
“SNPs in and around candidate genes including APOE, BIN1, SORL1, and CR1 have been associated with traits including medial temporal lobe atrophy and cortical thickness [225–228]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [226]
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- Authors
- Saykin, A. J., Shen, L., Foroud, T. M., Potkin, S. G., Swaminathan, S., Kim, S., Risacher, S. L., Nho, K., Huentelman, M. J., Craig, D. W., Thompson, P. M., Stein, J. L., Moore, J. H., Farrer, L. A., Green, R. C., Bertram, L., Jack, C. R., Weiner, M. W., & Initiative, A. D. N.
- Affiliations
- Indiana University Indianapolis (US)
- Department of Radiology and Imaging Sciences Center for Neuroimaging Indianapolis IN USA
- University of California, Irvine (US)
- Regenstrief Institute (US)
- Translational Genomics Research Institute (US)
- University of California, Los Angeles (US)
- Dartmouth College (US)
- Boston University (US)
- Max Planck Institute for Molecular Genetics (DE)
- Mayo Clinic (US)
- San Francisco VA Medical Center (US)
- Corresponding author
- Saykin, Andrew J.
- ORCID
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2010-05
- Volume
- 6
- Issue
- 3
- Pages
- 265-273
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC2868595
- OpenAlex
- W2107199945
- Cited by
- 442
- References
- 50
- Citations by year
- 2026: 13 · 2025: 28 · 2024: 33 · 2023: 23 · 2022: 41 · 2021: 36 · 2020: 36 · 2019: 32 · 2018: 26 · 2017: 31 · 2016: 35 · 2015: 23 · 2014: 19 · 2013: 20 · 2012: 19
- FWCI
- 14.39
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Alzheimer s & Dementia (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Institutes of Health (U01 AG024904, RC2 AG036535‐01)
- National Institute on Aging (R01 AG19771, P30 AG10133‐18S1)
- National Institute of Biomedical Imaging and Bioengineering (R03 EB008674)
- National Center for Research Resources (RR025761, U01 AG032984, P20 RR020837, R01 N5059873, U24 RR021992, P30 AG010129, K01 AG030514)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic biomarkers
- MeSH terms
- Alzheimer Disease, Cognition Disorders, Diagnostic Imaging, Gene Expression Regulation, Genotype, Humans, Image Interpretation, Computer-Assisted, Mutation, Phenotype, Biomarkers, Disease Progression, Radiopharmaceuticals, Fluorodeoxyglucose F18, Genetic Predisposition to Disease, Monomeric Clathrin Assembly Proteins, MicroRNAs, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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