The DOI matches its Crossref record; 37 of the 38 references it cites were found in a registry or an index.
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
Open accessAbstract
In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort of over 1600 neuropathologically defined AD cases and controls (1019 cases and 591 controls). Testing the top genes from the AlzGene meta-analysis, we confirm the well-known association with APOE single nucleotide polymorphisms (SNPs), the CLU, PICALM and CR1 SNPs recently implicated in unusually large data sets, and previously implicated CST3 and ACE SNPs. In the cases of CLU, PICALM and CR1, as well as in APOE, the odds ratios we find are slightly larger than those previously reported in clinical samples, consistent with what we believe to be more accurate classification of disease in the clinically characterized and neuropathologically confirmed AD cases and controls.
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“The association of PICALM polymorphisms with late-onset AD has been reported by the majority of GWAS studies (94, 119, 236, 265, 298, 344, 528).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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“APOE4 increases the risk for developing AD by 2.5-4-fold in heterozygous and 12-15-fold in homozygous carriers (Corder et al., 1993; Grupe et al., 2007; Corneveaux et al., 2010), however the risk is affected by factors such as sex or population ancestry (Belloy et al., 2023).”
From APOE genotype-dependent differences in human astrocytic energy metabolism (2025) · cites this paper as Corneveaux et al., 2010
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“Some additional highly replicated risk genes include CR1 , BIN1 , and TREM2 (94, 119, 219, 300, 344, 543).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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“Several GWAS studies have identified CLU as a significant genetic risk factor for sporadic AD (94, 119, 236, 343).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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Fast model-based estimation of ancestry in unrelated individuals
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A second generation human haplotype map of over 3.1 million SNPs
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Self-citationStaging of alzheimer's disease-related neurofibrillary changes
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Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
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Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
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Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312
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
Self-citationβ-Amyloid accumulation in the human brain after one night of sleep deprivation
Shokri-Kojori, E., Wang, G.-J., Wiers, C. E., Demiral, S. B., Guo, M., Kim, S. W., Lindgren, E., Ramirez, V., Zehra, A., Freeman, C., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1721694115 · Cited by 893
Post-traumatic stress disorder is associated with PACAP and the PAC1 receptor
Ressler, K. J., Mercer, K. B., Bradley, B., Jovanovic, T., Mahan, A., Kerley, K., Norrholm, S. D., Kilaru, V., Smith, A. K., Myers, A. J., et al. (2011) · Nature · doi:10.1038/nature09856 · Cited by 800
Self-citationAPOE and Alzheimer disease: a major gene with semi-dominant inheritance
Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., Bullido, M. J., Engelborghs, S., De Deyn, P., Berr, C., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.52 · Cited by 714
Metadata
- Authors
- Corneveaux, J. J., Myers, A. J., Allen, A. N., Pruzin, J. J., Ramirez, M., Engel, A., Nalls, M. A., Chen, K., Lee, W., Chewning, K., Villa, S. E., Meechoovet, H. B., Gerber, J. D., Frost, D., Benson, H. L., O'Reilly, S., Chibnik, L. B., Shulman, J. M., Singleton, A. B., Craig, D. W., Van Keuren-Jensen, K. R., Dunckley, T., Bennett, D. A., De Jager, P. L., Heward, C., Hardy, J., Reiman, E. M., & Huentelman, M. J.
- Affiliations
- Translational Genomics Research Institute (US)
- University of Miami (US)
- Banner Alzheimer’s Institute (US)
- Brigham and Women's Hospital (US)
- National Institutes of Health (US)
- Rush University Medical Center (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Corresponding author
- Huentelman, Matthew J.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-06-09
- Volume
- 19
- Issue
- 16
- Pages
- 3295-3301
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2908469
- OpenAlex
- W2147719183
- Cited by
- 237
- References
- 38
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 11 · 2023: 4 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 12 · 2018: 23 · 2017: 15 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 21 · 2012: 34
- FWCI
- 19.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- University of Miami
- Rush University
- Alzheimer's Society
- Alzheimer's Research Trust
- National Institute for Health and Care Research (P30AG10161)
- Newcastle University (G0400074)
- Stichting MS Research
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- North Bristol NHS Trust
- Universitat de Barcelona
- Hersenstichting
- National Institutes of Health (1k01ag024079-01a2, AG19610)
- Medical Research Council (G0400074)
- NIHR Newcastle Biomedical Research Centre
- National Institute on Aging (P30-AG 10161, P30-AG-19610, P50AG005144, AG-034504, P30AG028377, U01AG016976, K01-AG-024079, R01AG034504, AG-19610, P50AG016570, K08AG034290, P50AG005128, R01AG015819, P30AG010161, AG031581, R01AG031581, Z01AG000950, P50AG005681, P50AG008671, P30AG019610, P50AG005146, P50AG005136, P50AG005134)
- National Institute of Mental Health (P50MH060451)
- National Institute of Neurological Disorders and Stroke (R01NS059873, NS059873, P30 AG19610, P50NS039764)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic association, complement receptor 1, clusterin, PICALM, apolipoprotein E, CST3, ACE, single nucleotide polymorphisms, genetic risk variants, imputation
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Gene Frequency, Genotype, Humans, Cohort Studies, Odds Ratio, Receptors, Complement 3b, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Monomeric Clathrin Assembly Proteins, Clusterin, Genome-Wide Association Study
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