Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer’s disease
Open accessAbstract
Alzheimer's disease (AD) is a progressive neurodegenerative disorder with considerable evidence suggesting an initiation of disease in the entorhinal cortex and hippocampus and spreading thereafter to the rest of the brain. In this study, we combine genetics and imaging data obtained from the Alzheimer's Disease Neuroimaging Initiative and the AddNeuroMed study. To identify genetic susceptibility loci for AD, we conducted a genome-wide study of atrophy in regions associated with neurodegeneration in this condition. We identified one single-nucleotide polymorphism (SNP) with a disease-specific effect associated with entorhinal cortical volume in an intron of the ZNF292 gene (rs1925690; P-value=2.6 × 10(-8); corrected P-value for equivalent number of independent quantitative traits=7.7 × 10(-8)) and an intergenic SNP, flanking the ARPP-21 gene, with an overall effect on entorhinal cortical thickness (rs11129640; P-value=5.6 × 10(-8); corrected P-value=1.7 × 10(-7)). Gene-wide scoring also highlighted PICALM as the most significant gene associated with entorhinal cortical thickness (P-value=6.7 × 10(-6)).
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Several genes previously implicated in AD, including APOE and PICALM, have been associated with imaging endophenotypes.
“while several genes previously implicated in AD (including APOE and PICALM [229]) have been associated with imaging endophenotypes”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [229]
A large number of novel loci and genes have been nominated by imaging GWAS analyses.
“a large number of novel loci and genes have been nominated by these analyses [222, 229–231]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [229]
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References 34 · Cited by 157
- Authors
- Furney, S. J., Simmons, A., Breen, G., Pedroso, I., Lunnon, K., Proitsi, P., Hodges, A., Powell, J., Wahlund, L.-O., Kloszewska, I., Mecocci, P., Soininen, H., Tsolaki, M., Vellas, B., Spenger, C., Lathrop, M., Shen, L., Kim, S., Saykin, A. J., Weiner, M. W., Lovestone, S., & on behalf of the Alzheimer's Disease Neuroimaging Initiative and the AddNeuroMed Consortium
- Affiliations
- King's College London (GB)
- Karolinska University Hospital (SE)
- University of Perugia (IT)
- Kuopio University Hospital (FI)
- Aristotle University of Thessaloniki (GR)
- Centre Hospitalier Universitaire de Toulouse (FR)
- Karolinska Institutet (SE)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Indiana University Indianapolis (US)
- University of California, San Francisco (US)
- Corresponding author
- Lovestone, S
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2010-11-30
- Volume
- 16
- Issue
- 11
- Pages
- 1130-1138
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC5980656
- OpenAlex
- W2079873327
- Cited by
- 157
- References
- 34
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 5 · 2023: 6 · 2022: 10 · 2021: 12 · 2020: 14 · 2019: 8 · 2018: 13 · 2017: 6 · 2016: 11 · 2015: 17 · 2014: 15 · 2013: 21 · 2012: 6
- FWCI
- 6.34
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Research Portal (King's College London) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Institute for Health and Care Research
- Innovative Medicines Initiative
- National Institutes of Health (5u01ag024904-10)
- National Institute on Aging (U01-AG-024904, P30AG010129, P30AG010133, K01AG030514, R01AG019771, U19AG024904)
- U.S. National Library of Medicine (R01LM011360)
- 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, brain atrophy, entorhinal cortex, cortical thickness, cortical volume, PICALM, single nucleotide polymorphisms, genetic susceptibility loci, hippocampus, neurodegeneration, magnetic resonance imaging
- MeSH terms
- Alzheimer Disease, Atrophy, Brain, Carrier Proteins, Female, Hippocampus, Humans, Introns, Magnetic Resonance Imaging, Male, Nerve Tissue Proteins, Organ Size, Phosphoproteins, Risk Factors, Linkage Disequilibrium, Disease Progression, Entorhinal Cortex, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Monomeric Clathrin Assembly Proteins, Quantitative Trait Loci, Apolipoprotein E4, Genome-Wide Association Study
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