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ABCA7 rare variants and Alzheimer disease risk
Open accessAbstract
OBJECTIVE: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. METHODS: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. RESULTS: After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). CONCLUSIONS: These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants.
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“For example, rare variants in SORL1 and ABCA7 have been identified in family-based studies of LOAD [147–150], each of which have been associated with alterations in APP processing.”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [150]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
McKhann, G. M., Knopman, D. S., Chertkow, H., Hyman, B. T., Jack, C. R., Kawas, C. H., Klunk, W. E., Koroshetz, W. J., Manly, J. J., Mayeux, R., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.005 · Cited by 18,657
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,724
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
TREM2 Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020
Self-citationVariant of TREM2 Associated with the Risk of Alzheimer's Disease
Jonsson, T., Stefansson, H., Steinberg, S., Jonsdottir, I., Jonsson, P. V., Snaedal, J., Bjornsson, S., Huttenlocher, J., Levey, A. I., Lah, J. J., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211103 · Cited by 2,558
A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738
Data quality control in genetic case-control association studies
Anderson, C. A., Pettersson, F. H., Clarke, G. M., Cardon, L. R., Morris, A. P., & Zondervan, K. T. (2010) · Nature Protocols · doi:10.1038/nprot.2010.116 · Cited by 1,318
Rovelet‐Lecrux, A., Hannequin, D., Raux, G., Meur, N. L., Laquerrière, A., Vital, A., Dumanchin‐Njock, C., Feuillette, S., Brice, A., Vercelletto, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1718 · Cited by 1,284
Self-citationJun, G., Flickinger, M., Hetrick, K. N., Romm, J. M., Doheny, K. F., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.09.004 · Cited by 484
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., et al. (2014) · Nature · doi:10.1038/nature12825 · Cited by 461
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
DemGene, Steinberg, S., Stefansson, H., Jonsson, T., Johannsdottir, H., Ingason, A., Helgason, H., Sulem, P., Magnusson, O. T., Gudjonsson, S. A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3246 · Cited by 324
Pottier, C., Hannequin, D., Coutant, S., Rovelet-Lecrux, A., Wallon, D., Rousseau, S., Legallic, S., Paquet, C., Bombois, S., Pariente, J., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.15 · Cited by 305
Self-citationKim, W. S., Li, H., Ruberu, K. R., Chan, S. L., Elliott, D. A., Low, J. K., Cheng, D., Karl, T., & Garner, B. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.4165-12.2013 · Cited by 216
Alzheimer's Disease Genetics Consortium, Wetzel-Smith, M. K., Hunkapiller, J., Bhangale, T. R., Srinivasan, K., Maloney, J. A., Atwal, J. K., Sa, S. M., B Yaylaoglu, M., Foreman, O., et al. (2014) · Nature Medicine · doi:10.1038/nm.3736 · Cited by 153
Cuyvers, E., De Roeck, A., Van den Bossche, T., Van Cauwenberghe, C., Bettens, K., Vermeulen, S., Mattheijssens, M., Peeters, K., Engelborghs, S., Vandenbulcke, M., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00133-7 · Cited by 152
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Nicolas, G., Charbonnier, C., Wallon, D., Quenez, O., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Le Guennec, K., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.121 · Cited by 129
Self-citationATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing
Satoh, K., Abe-Dohmae, S., Yokoyama, S., St George-Hyslop, P., & Fraser, P. E. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.655076 · Cited by 128
Nicolas, G., Wallon, D., Charbonnier, C., Quenez, O., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Coutant, S., Le Guennec, K., Bacq, D., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.173 · Cited by 89
Self-citationWang, G. T., Peng, B., & Leal, S. M. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.04.004 · Cited by 80
PLD3 in non-familial Alzheimer's disease
Heilmann‐Heimbach, S., Drichel, D., Clarimón, J., Fernández, M. V., Lacour, A., Wagner, H., Thelen, M., Hernández, I., Fortea, J., Alegret, M., et al. (2015) · Nature · doi:10.1038/nature14039 · Cited by 67
PLD3 gene variants and Alzheimer's disease
Hooli, B. V., Lill, C. M., Mullin, K., Qiao, D., Lange, C., Bertram, L., & Tanzi, R. E. (2015) · Nature · doi:10.1038/nature14040 · Cited by 64
PLD3 and sporadic Alzheimer's disease risk
Lambert, J., Grenier‐Boley, B., Bellenguez, C., Pasquier, F., Campion, D., Dartigues, J., Berr, C., Tzourio, C., & Amouyel, P. (2015) · Nature · doi:10.1038/nature14036 · Cited by 63
Self-citationPLD3 variants in population studies
van der Lee, S. J., Holstege, H. H., Wong, T. H., Jakobsdóttir, J., Bis, J. C., Chouraki, V. A., van Rooij, J., Grove, M. L., Smith, A. V., Amin, N., et al. (2015) · Nature · doi:10.1038/nature14038 · Cited by 55
Cacace, R., den Bossche, T. V., Engelborghs, S., Geerts, N., Laureys, A., Dillen, L., Graff, C., Thonberg, H., Chiang, H., Pástor, P., et al. (2015) · Human Mutation · doi:10.1002/humu.22908 · Cited by 25
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Mendez, M. F. (2017) · Neurologic Clinics · doi:10.1016/j.ncl.2017.01.005 · Cited by 389
Metadata
- Authors
- Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Bacq, D., Garnier, J.-G., Olaso, R., Boland, A., Meyer, V., Deleuze, J.-F., Amouyel, P., Munter, H. M., Bourque, G., Lathrop, M., Frebourg, T., Redon, R., Letenneur, L., Dartigues, J.-F., Pasquier, F., Rollin-Sillaire, A., Génin, E., Lambert, J.-C., Hannequin, D., Campion, D., collaborators, C.-M., Hannequin, D., Campion, D., Wallon, D., Martinaud, O., Nicolas, G., Rollin-Sillaire, A., Bombois, S., Mackowiak, M.-A., Deramecourt, V., Pasquier, F., Michon, A., Le Ber, I., Dubois, B., Duyckaerts, C., Godefroy, O., Etcharry-Bouyx, F., Chauviré, V., Chamard, L., Berger, E., Magnin, E., Dartigues, J.-F., Auriacombe, S., Tison, F., Goizet, C., Sayette, V. D. L., Viader, F., Castan, D., Dionet, E., Sellal, F., Rouaud, O., Thauvin, C., Moreaud, O., Sauvée, M., Formaglio, M., Mollion, H., Roullet-Solignac, I., Vighetto, A., Croisile, B., Didic, M., Félician, O., Koric, L., Ceccaldi, M., Gabelle, A., Marelli, C., Touchon, J., Labauge, P., Jonveaux, T., Vercelletto, M., Boutoleau-Bretonnière, C., Castelnovo, G., Renaud, D., Robert, P., Paquet, C., Dumurgier, J., Hugon, J., De Boisgueheneuc, F., Belliard, S., Bakchine, S., Sarazin, M., Barrellon, M.-O., Laurent, B., Blanc, F., Tranchant, C., Pariente, J., Puel, M., Hommet, C., & Mondon, K.
- Affiliations
- From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A.,...
- Inserm (FR)
- Centre Hospitalier Universitaire Amiens-Picardie (FR)
- Institute for Research and Innovation in Biomedicine (FR)
- Hôpital Charles-Nicolle (FR)
- ORCID
- Quenez, Olivier
- Charbonnier, Camille
- Bellenguez, Céline
- Olaso, Robert
- Boland, Anne
- Meyer, Vincent
- Deleuze, Jean-François
- Amouyel, Philippe
- Bourque, Guillaume
- Lathrop, Mark
- Redon, Richard
- Letenneur, Luc
- Génin, Emmanuelle
- Lambert, Jean-Charles
- Bombois, Stéphanie
- Deramecourt, Vincent
- Dubois, Bruno
- Duyckaerts, Charles
- Godefroy, Olivier
- Tison, François
- Goizet, Cyril
- Sayette, Vincent de la
- Viader, Fausto
- Rouaud, Olivier
- Moreaud, Olivier
- Sauvée, Mathilde
- Croisile, Bernard
- Didic, Mira
- Félician, Olivier
- Koric, Lejla
- Ceccaldi, Mathieu
- Gabelle, Audrey
- Labauge, Pierre
- Jonveaux, Thérèse
- Castelnovo, Giovanni
- Robert, Philippe
- Paquet, Claire
- Dumurgier, Julien
- Hugon, Jacques
- Belliard, Serge
- Sarazin, Marie
- Laurent, Bernard
- Blanc, Frédéric
- Tranchant, Christine
- Pariente, Jérémie
- Venue
- Neurology
- Published
- 2016-06-07
- Volume
- 86
- Issue
- 23
- Pages
- 2134-2137
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC4898320
- OpenAlex
- W2322302990
- Cited by
- 69
- References
- 28
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 5 · 2022: 13 · 2021: 4 · 2020: 7 · 2019: 6 · 2018: 12 · 2017: 10 · 2016: 4
- FWCI
- 8.59
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-11-LABX-0009)
- 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
- ABCA7, Alzheimer's disease, early-onset Alzheimer's disease, rare coding variants, loss-of-function mutations, missense mutations, genetic risk, exome sequencing, case-control association
- MeSH terms
- Aged, Alzheimer Disease, Belgium, France, Gene Frequency, Humans, Mutation, Case-Control Studies, ATP-Binding Cassette Transporters, Genetic Predisposition to Disease, Genetic Association Studies, Exome
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