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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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]
The cited source says what the claim attributes to it.
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
Strittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
Self-citationStaging of alzheimer's disease-related neurofibrillary changes
Braak, H., & Braak, E. (1995) · Neurobiology of Aging · doi:10.1016/0197-4580(95)00021-6 · Cited by 2,357
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
Bertram, L., McQueen, M. B., Mullin, K., Blacker, D., & Tanzi, R. E. (2007) · Nature Genetics · doi:10.1038/ng1934 · Cited by 1,857
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.262.18.2551 · Cited by 1,627
Cited by
Sorted by citations
Items 201–237 of 237
Genetic Risk Factors for Dementia
Hollingworth, P., & Williams, J. H. (2011) · Wiley eBooks · doi:10.1002/9781444344110.ch6 · Cited by 4
Wang, X., Zhang, F., Cui, Y., Zheng, L., & Yan, W. (2017) · PubMed Central · Cited by 3
Metals Involvement in Alzheimer’s Disease — A Patho-Genetic View
Salustri, C., Siotto, M., Bucossi, S., & Squitti, R. (2015) · InTech eBooks · doi:10.5772/60447 · Cited by 2
Multi-scale study of normal aging predicts novel late-onset Alzheimer's disease risk variants
Neuner, S. M., Wilmott, L. A., Both, M. D. D., Shapaker, T. M., Ingels, J. F., Lu, L., Williams, R. W., Kempermann, G., Huentelman, M. J., & Kaczorowski, C. C. (2015) · BMC Bioinformatics · doi:10.1186/1471-2105-16-s15-p11 · Cited by 2
Self-citationA Nutritional Genomics Approach to Epigenetic Influences on Chronic Disease
Williamson, C. B., & Pizano, J. M. (2020) · Springer eBooks · doi:10.1007/978-3-030-30730-1_17 · Cited by 2
Degenerative Brain Diseases and White Matter Injury
Bartzokis, G., & Lu, P. H. (2013) · Springer eBooks · doi:10.1007/978-1-4614-9123-1_14 · Cited by 1
Intracerebral Hemorrhage and Cerebral Amyloid Angiopathy
Biffi, A., & Rosand, J. M. (2012) · Springer eBooks · doi:10.1007/978-0-85729-209-4_5 · Cited by 1
Chen, L. H., Kao, P. Y. P., Fan, Y., Ho, D. T. Y., Chan, S. Y., Yik, P. Y., Ha, J. C. T., Chu, L., & Song, Y. (2011) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2011.05.498 · Cited by 1
Complement Component (3b/4b) Receptor 1 (CR1)
Lord, J., & Morgan, K. (2013) · Springer eBooks · doi:10.1007/978-1-4614-7309-1_5 · Cited by 1
Perna, S., Bologna, C., Cavagna, P., Bernardinelli, L., Guido, D., Peroni, G., & Rondanelli, M. (2016) · Genetika · doi:10.2298/gensr1602515p · Cited by 1
Lord, J., & Morgan, K. (2013) · Springer eBooks · doi:10.1007/978-1-4614-7309-1_3 · Cited by 1
Intracerebral Hemorrhage and Cerebral Amyloid Angiopathy
Mayerhofer, E., Biffi, A., & Rosand, J. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-41777-1_11 · Cited by 1
Huq, A. J., Thompson, B. A., & Winship, I. (2024) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2024.2388765 · Cited by 1
Lu, Y., Liu, W., Tan, K., Peng, J., Zhu, Y., & Wang, X. (2015) · Neurological Sciences · doi:10.1007/s10072-015-2451-3 · Cited by 1
Tan, Q., Lindahl‐Jacobsen, R., Nygaard, M., Soerensen, M., Mengel‐From, J., Christiansen, L., & Christensen, K. (2020) · American Journal of Epidemiology · doi:10.1093/aje/kwaa007 · Cited by 1
Ubiquitination and SUMOylation of Amyloid and Amyloid-like Proteins in Health and Disease
Ford, L. K., Fioriti, L., & Kandel, E. R. (2019) · Caister Academic Press eBooks · doi:10.21775/9781912530120.25 · Cited by 1
Yeast as a Model for Studying Aβ Aggregation, Toxicity and Clearance
Bharadwaj, P. (2011) · Australasian Journal of Paramedicine · Cited by 1
Branciamore, S., Gogoshin, G., Rodin, A. S., & Myers, A. (2023) · Research Square · doi:10.21203/rs.3.rs-3678057/v1 · Cited by 1
Self-citationPoliformismos do gene da proteína príon celular em pacientes com doença de Alzheimer
Smid, J. (2011) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2011.tde-24052011-142607
ROLE OF GENOMIC COPY NUMBER VARIATION IN ALZHEIMER'S DISEASE AND MILD COGNITIVE IMPAIRMENT
Swaminathan, S. (2013) · IUScholarWorks (Indiana University) · doi:10.7912/c2/1949
Further insights into Alzheimer's disease
Sims, R., Gerrish, A., & Williams, J. H. (2012) · Quality in Ageing and Older Adults · doi:10.1108/14717791211264043
P2‐030: INVESTIGATING THE ROLE OF CLU, PICALM, AND CR1 IN ALZHEIMER'S DISEASE
Lord, J., Turton, J. C., Braae, A., Barber, I., Medway, C., Brown, K. S., & Morgan, K. (2014) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2014.05.703
Epigenetics of Cognition and Neurodegenerative Disorders
Coleman, P. D., Huentelman, M. J., & Dunckley, T. L. (2014) · Neuromethods · doi:10.1007/978-1-4939-2159-1_10
Self-citationCharacterising the role of CR1 and CR2 in a humanised mouse model
Williams, H. M. (2016) · ORCA Online Research @Cardiff (Cardiff University)
Hawley, B. (2012) · uO Research (University of Ottawa) · doi:10.20381/ruor-6225
The olfactory dysfunctions occurring in the course of Alzheimer’s disease
Mydlikowska-Śmigórska, A., & Śmigórski, K. (2017) · Postępy Psychiatrii i Neurologii · doi:10.5114/ppn.2017.69378
Turgut Ozal University Faculty of Medicine 6th International Student Congress
Turgut Ozal University Faculty of Medicine 6th International Student Congress (2015) · Clinical and investigative medicine · doi:10.25011/cim.v38i4.24263
Intracerebral Hemorrhage and Cerebral Amyloid Angiopathy
Biffi, A., & Rosand, J. M. (2017) · Springer eBooks · doi:10.1007/978-3-319-56210-0_5
Exploring the Mechanism of CLU Regulating Tau Pathology in the Pathogenesis of Alzheimer’s Disease
周, 杰. (2024) · Advances in Clinical Medicine · doi:10.12677/acm.2024.1451464
Polygenic risk score analysis suggests hypothyroidism as a risk factor for Alzheimer’s disease
Piras, I. S., Naymik, M., Don, J., Schork, N. J., Saner, D., & Huentelman, M. J. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.088329
Self-citationTalyansky, S. D., Guen, Y. L., Kasireddy, N. M., Belloy, M. E., & Greicius, M. D. (2024) · Figshare · doi:10.6084/m9.figshare.26616934
Mahmoudi, A.-E.-R. (2015) · theses.fr (ABES) · doi:10.70675/5f05520ez1713z4991za6c8z055ab117e2bb
Schorova, L. (2018) · theses.fr (ABES) · doi:10.70675/a30a505az5e81z4089za24azcf43d27e33ce
The modifier matrix: emerging roles of ubiquitin-like proteins in Alzheimer’s disease
颜亭祥, Vaquer, J., Springer, W., & Fiesel, F. C. (2026) · Molecular Neurodegeneration Advances · doi:10.1186/s44477-026-00031-2
SuperAging is not the inverse of common-variant Alzheimer’s risk: evidence across genetic ancestries
Piras, I. S., Capuano, A. W., Maher, A. C., Schafer, R., Bonfitto, A., Song, S., Taguinod, F., Goldstein, F. C., Roberts, A., Okonkwo, O. C., et al. (2026) · Alzheimer s Research & Therapy · doi:10.1186/s13195-026-02124-2
Self-citationBrains for dementia research at 18: Commitment to impact the value of human post‐mortem tissue
Brookes, K. J., Barnett, N. A., Jackson, J., Kidd, E. J., Lett, D. J., Madine, J., Middlehurst, B., Palmer, L. E., Parkkinen, L., Robinson, A., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71956
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
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 ›
Are you an author, or do you see a problem with this page? Request a review
