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Genetic Variation and Neuroimaging Measures in Alzheimer Disease
Open accessAbstract
OBJECTIVE: To investigate whether genome-wide association study (GWAS)-validated and GWAS-promising candidate loci influence magnetic resonance imaging measures and clinical Alzheimer's disease (AD) status. DESIGN: Multicenter case-control study of genetic and neuroimaging data from the Alzheimer's Disease Neuroimaging Initiative. SETTING: Multicenter GWAS. Patients A total of 168 individuals with probable AD, 357 with mild cognitive impairment, and 215 cognitively normal control individuals recruited from more than 50 Alzheimer's Disease Neuroimaging Initiative centers in the United States and Canada. All study participants had APOE and genome-wide genetic data available. MAIN OUTCOME MEASURES: We investigated the influence of GWAS-validated and GWAS-promising novel AD loci on hippocampal volume, amygdala volume, white matter lesion volume, entorhinal cortex thickness, parahippocampal gyrus thickness, and temporal pole cortex thickness. RESULTS: Markers at the APOE locus were associated with all phenotypes except white matter lesion volume (all false discovery rate-corrected P values < .001). Novel and established AD loci identified by prior GWASs showed a significant cumulative score-based effect (false discovery rate P = .04) on all analyzed neuroimaging measures. The GWAS-validated variants at the CR1 and PICALM loci and markers at 2 novel loci (BIN1 and CNTN5) showed association with multiple magnetic resonance imaging characteristics (false discovery rate P < .05). CONCLUSIONS: Loci associated with AD also influence neuroimaging correlates of this disease. Furthermore, neuroimaging analysis identified 2 additional loci of high interest for further study.
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“In addition, the SNPs of BIN1, such as rs744373 and rs7561528, may contribute to AD susceptibility by impacting brain structure and function [480, 481].”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [480]
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“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 [227]
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Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997
Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis
Karch, C. M., & Goate, A. M. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.05.006 · Cited by 1,357
Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease
Guo, T., Zhang, D., Zeng, Y., Huang, T. Y., Xu, H., & Zhao, Y. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00391-7 · Cited by 994
The Alzheimer's Disease Neuroimaging Initiative: A review of papers published since its inception
Weiner, M. W., Veitch, D. P., Aisen, P. S. S., Beckett, L. A., Cairns, N. J., Green, R. C., Harvey, D. J., Jack, C. R., Jagust, W. J., Liu, E., et al. (2013) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2013.05.1769 · Cited by 1,033
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
the Alzheimer’s Disease Neuroimaging Initiative, E. C., Thompson, P. M., Stein, J. L., Medland, S. E., Hibar, D. P., Vasquez, A. A., Renteria, M. E., Toro, R., Jahanshad, N., Schumann, G., et al. (2014) · Brain Imaging and Behavior · doi:10.1007/s11682-013-9269-5 · Cited by 838
Metadata
- Authors
- Biffi, A.
- Affiliations
- Massachusetts General Hospital (US)
- Corresponding author
- Biffi, Alessandro
- ORCID
- Biffi, Alessandro
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2010-06-01
- Volume
- 67
- Issue
- 6
- Pages
- 677
- ISSN
- 0003-9942 (ISSN-L)
- PMC
- PMC2956757
- OpenAlex
- W2105172870
- Cited by
- 222
- References
- 36
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 6 · 2023: 5 · 2022: 12 · 2021: 9 · 2020: 14 · 2019: 17 · 2018: 14 · 2017: 9 · 2016: 28 · 2015: 14 · 2014: 19 · 2013: 26 · 2012: 14
- FWCI
- 14.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Foundation for the National Institutes of Health (U01AG024904, AG024904)
- Howard Hughes Medical Institute
- Ellison Medical Foundation
- Alzheimer's Association (AG05681, U01 AG024904)
- American Heart Association
- Bristol-Myers Squibb (U01 AG024904, AG024904)
- Eli Lilly and Company (U01 AG024904, AG024904)
- Pfizer (AG024904, U01 AG024904)
- GlaxoSmithKline (P01AG03991)
- Northern California Institute for Research and Education (U01 AG024904)
- Elan (U01 AG024904)
- Eisai (U01 AG024904, AG024904)
- National Institutes of Health (5u01ag024904-10, 6u54rr020278-06, BIRN002, U01-AG024904, AG05681, RR14075, AG024904, NS042861)
- University of California, Los Angeles
- University of California, San Diego
- National Institute on Aging (U01-AG-024904, AG021910, P30AG010129, R01AG021910, R01AG026484, AG 024904, K01AG030514, AG 05681, P 50 AG05681, P50AG005681, P01 AG0 3991, P01AG003991, AG02238, U19AG010483, U24AG021886)
- National Institute on Drug Abuse (R21DA026104)
- National Institute of Neurological Disorders and Stroke (R01NS042861, R01NS059727, R01NS052585)
- National Institute of Biomedical Imaging and Bioengineering (R01EB001550, R01EB006758, U01 AG024904, AG024904)
- National Center for Research Resources (U54-RR020278, P41-RR-14075, RR 14075, U24RR021382, R01 RR1659401A1, P41RR014075, BIRN002, R01RR016594, U01 AG024904)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic loci, genome-wide association study, hippocampal volume, amygdala volume, white matter lesions, cortical thickness, apolipoprotein E, complement receptor 1, PICALM, BIN1, CNTN5, mild cognitive impairment, Alzheimer's Disease Neuroimaging Initiative
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Apolipoproteins E, Canada, Cognition Disorders, Female, Genotype, Humans, Image Interpretation, Computer-Assisted, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Nuclear Proteins, Risk Factors, United States, Reproducibility of Results, Cell Adhesion Molecules, Neuronal, Logistic Models, Odds Ratio, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Adaptor Proteins, Signal Transducing, Genome-Wide Association Study
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