The DOI matches its Crossref record; 33 of the 34 references it cites were found in a registry or an index.
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study
Abstract
Background ABCA7 was identified as a risk gene for Alzheimer's disease in genome-wide association studies (GWAS). It was one of the genes most strongly associated with risk of Alzheimer's disease in a Belgian cohort. Using targeted resequencing, we investigated ABCA7 in this cohort with the aim to directly detect rare and common variations in this gene associated with Alzheimer's disease pathogenesis. Methods We did massive parallel resequencing of ABCA7 after HaloPlex target enrichment of the exons, introns, and regulatory regions in 772 unrelated patients with Alzheimer's disease (mean age at onset 74·6 years [SD 8·9]) recruited at two memory clinics in Flanders, Belgium, and 757 geographically matched community-dwelling controls (mean age at inclusion 73·9 years [8·0]). After bioinformatic processing, common variants were analysed with conditional logistic regression and rare variant association analysis was done in Variant Association Tools. To explore an observed founder effect, additional unrelated patients with Alzheimer's disease (n=183, mean age at onset 78·8 years [SD 6·0]) and control individuals (n=265, mean age at inclusion 56·9 years [10·8]) from the same cohort who had not been included in massive parallel resequencing because of insufficient biosamples were screened for the ABCA7 frameshift mutation Glu709fs with Sanger sequencing. The effect of loss-of-function mutations on ABCA7 expression was investigated with quantitative real-time PCR in post-mortem brains of patients (n=3) and control individuals (n=4); nonsense mediated mRNA decay was investigated in lymphoblast cell lines from three predicted loss-of-function mutation carriers from the cohort of 772 patients with Alzheimer's disease. Findings An intronic low-frequency variant rs78117248 (minor allele frequency 3·8% in 58 patients with Alzheimer's disease and in controls 1·8% in 28 controls) showed strongest association with Alzheimer's disease (odds ratio 2·07, 95% CI 1·31-3·27; p=0·0016), and remained significant after conditioning for the GWAS top single nucleotide polymorphisms rs3764650, rs4147929, and rs3752246 (2·00, 1·22-3·26; p=0·006). We identified an increased frequency of predicted loss-of-function mutations in the patients compared with the controls (relative risk 4·03, 95% CI 1·75-9·29; p=0·0002). One frameshift mutation (Glu709fs) showed a founder effect in the study population, and was found to segregate with disease in a family with autosomal dominant inheritance of Alzheimer's disease. Expression of ABCA7 was reduced in the two carriers of loss-of-function mutations found only in patients with Alzheimer's disease (Glu709fs and Trp1214*) compared with four non-carrier controls (relative expression 0·45, 95% CI 0·25-0·84; p=0·002) and in lymphoblast cell lines from three carriers of Glu709fs compared with those from two non-carrier controls. Interpretation We propose that a low-frequency variant can explain the association between ABCA7 and Alzheimer's disease, and the evidence of loss-of-function mutations in this risk gene suggests that partial loss-of-function of ABCA7 could be a potential pathogenetic mechanism of Alzheimer's disease. Funding Belgian Science Policy Office Interuniversity Attraction Poles program P7/16, Alzheimer Research Foundation, King Baudouin Foundation AB Fund, Methusalem Excellence Program initiative of the Flemish Government, Flanders Impulse Program on Networks for Dementia Research, Research Foundation Flanders, Agency for Innovation by Science and Technology Flanders, University of Antwerp Research Fund, and European Union's Seventh Framework Programme for Research, Technological development and Demonstration (AgedBrainSYSBIO).
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?
In the citing paper
“loss-of-function mutations in ABCA7 have been identified as associated with disease risk in European populations [104–106]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [105]
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
Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975) · Journal of Psychiatric Research · doi:10.1016/0022-3956(75)90026-6 · Cited by 88,282
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
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
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
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336
Self-citationHarold, 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-citationHyman, B. T., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Carrillo, M. C., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., et al. (2012) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.10.007 · Cited by 3,092
Genome-wide association studies for common diseases and complex traits
Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,923
Annotation of functional variation in personal genomes using RegulomeDB
Boyle, A. P., Hong, E. L., Hariharan, M., Cheng, Y., Schaub, M. A., Kasowski, M., Karczewski, K. J., Park, J., Hitz, B. C., Weng, S., et al. (2012) · Genome Research · doi:10.1101/gr.137323.112 · Cited by 2,722
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
Self-citation
Cited by
Sorted by citations
Scheltens, P., De Strooper, B., Kivipelto, M., Holstege, H., Chételat, G., Teunissen, C. E., Cummings, J., & van der Flier, W. M. (2021) · The Lancet · doi:10.1016/s0140-6736(20)32205-4 · Cited by 5,465
The genetic landscape of Alzheimer disease: clinical implications and perspectives
Van Cauwenberghe, C., Van Broeckhoven, C., & Sleegers, K. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.117 · Cited by 863
Self-citationMolecular genetics of early-onset Alzheimer’s disease revisited
Cacace, R., Sleegers, K., & Van Broeckhoven, C. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.01.012 · Cited by 617
Self-citationLate onset Alzheimer’s disease genetics implicates microglial pathways in disease risk
Efthymiou, A. G., & Goate, A. M. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0184-x · Cited by 562
Bisht, K., Sharma, K. P., & Tremblay, M. (2018) · Neurobiology of Stress · doi:10.1016/j.ynstr.2018.05.003 · Cited by 366
Cuyvers, E., & Sleegers, K. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)00127-7 · Cited by 292
Self-citationBis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-018-0112-7 · Cited by 248
Genetics of Alzheimer’s disease: where we are, and where we are going
Bellenguez, C., Grenier-Boley, B., & Lambert, J.-C. (2020) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.11.024 · Cited by 215
Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01208-7 · Cited by 226
Untangling Genetic Risk for Alzheimer’s Disease
Pimenova, A. A., Raj, T., & Goate, A. M. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.05.014 · Cited by 223
The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics
De Roeck, A., Van Broeckhoven, C., & Sleegers, K. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01994-1 · Cited by 212
Self-citationUnderstanding Alzheimer Disease at the Interface between Genetics and Transcriptomics
Verheijen, J., & Sleegers, K. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.02.007 · Cited by 192
Self-citationBellenguez, C., Charbonnier, C., Grenier-Boley, B., Quenez, O., Le Guennec, K., Nicolas, G., Chauhan, G., Wallon, D., Rousseau, S., Richard, A. C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.07.001 · Cited by 166
A global view of the genetic basis of Alzheimer disease
Reitz, C., Pericak‐Vance, M. A., Foroud, T., & Mayeux, R. P. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00789-z · Cited by 181
Unique roles of rare variants in the genetics of complex diseases in humans
Momozawa, Y., & Mizukami, K. (2021) · Journal of Human Genetics · doi:10.1038/s10038-020-00845-2 · Cited by 161
ABCA7 Deficiency Accelerates Amyloid-β Generation and Alzheimer's Neuronal Pathology
Sakae, N., Liu, C., Shinohara, M., Frisch‐Daiello, J. L., Ma, L., Yamazaki, Y., Tachibana, M., Younkin, L. H., Kurti, A., Carrasquillo, M. M., et al. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.3757-15.2016 · Cited by 151
The genetic landscape of Alzheimer disease
Carmona, S., Hardy, J., & Guerreiro, R. J. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00026-0 · Cited by 140
Genetic analyses of early-onset Alzheimer’s disease using next generation sequencing
Giau, V. V., Bagyinszky, E., Yang, Y. S., Youn, Y. C., An, S. S. A., & Kim, S. (2019) · Scientific Reports · doi:10.1038/s41598-019-44848-2 · Cited by 137
ATP-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
Neurodegeneration and Neuro-Regeneration—Alzheimer’s Disease and Stem Cell Therapy
Vasić, V., Barth, K., & Schmidt, M. H. H. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20174272 · Cited by 129
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126
ABCA7 and Pathogenic Pathways of Alzheimer’s Disease
Aikawa, T., Holm, M., & Kanekiyo, T. (2018) · Brain Sciences · doi:10.3390/brainsci8020027 · Cited by 128
Campion, D., Charbonnier, C., & Nicolas, G. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01991-4 · Cited by 124
Alzheimer's Disease Mechanisms and Emerging Roads to Novel Therapeutics
Sala Frigerio, C., & De Strooper, B. (2016) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-070815-014015 · Cited by 116
Verheijen, J., Van den Bossche, T., van der Zee, J., Engelborghs, S., Sanchez-Valle, R., Lladó, A., Graff, C., Thonberg, H., Pastor, P., Ortega-Cubero, S., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1566-9 · Cited by 112
Self-citationHoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 109
Genome–microbiome interplay provides insight into the determinants of the human blood metabolome
Diener, C., Dai, C. L., Wilmanski, T., Baloni, P., Smith, B., Rappaport, N., Hood, L., Magis, A. T., & Gibbons, S. M. (2022) · Nature Metabolism · doi:10.1038/s42255-022-00670-1 · Cited by 102
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans
Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000079 · Cited by 100
ABCA7 Mediates Phagocytic Clearance of Amyloid-β in the Brain
Fu, Y., Hsiao, J.-H. T., Paxinos, G., Halliday, G. M., & Kim, W. S. (2016) · Journal of Alzheimer s Disease · doi:10.3233/jad-160456 · Cited by 99
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Guennec, K. L., Quenez, O., Nicolas, G., Wallon, D., Rousseau, S., Richard, A.-C., Alexander, J., Paschou, P., Charbonnier, C., Bellenguez, C., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.226 · Cited by 102
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
On Behalf of the BELNEU Consortium, De Roeck, A., Duchateau, L., Van Dongen, J., Cacace, R., Bjerke, M., Van den Bossche, T., Cras, P., Vandenberghe, R., De Deyn, P. P., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1841-z · Cited by 93
Self-citationShifting paradigms: The central role of microglia in Alzheimer’s disease
Schwabe, T., Srinivasan, K., & Rhinn, H. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104962 · Cited by 84
Semba, R. D. (2020) · Advances in Nutrition · doi:10.1093/advances/nmaa024 · Cited by 78
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
On behalf of the European Early-Onset Dementia (EU EOD) consortium, De Roeck, A., Van den Bossche, T., van der Zee, J., Verheijen, J., De Coster, W., Van Dongen, J., Dillen, L., Baradaran-Heravi, Y., Heeman, B., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1714-x · Cited by 74
Self-citationNitta, Y., & Sugie, A. (2022) · Fly · doi:10.1080/19336934.2022.2087484 · Cited by 81
The Role of Genetics in Advancing Precision Medicine for Alzheimer’s Disease—A Narrative Review
Freudenberg‐Hua, Y., Li, W., & Davies, P. (2018) · Frontiers in Medicine · doi:10.3389/fmed.2018.00108 · Cited by 80
ABCA7 rare variants and Alzheimer disease risk
Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002627 · Cited by 69
Genetics of Alzheimer's Disease
Kim, J. H. (2018) · Dementia and Neurocognitive Disorders · doi:10.12779/dnd.2018.17.4.131 · Cited by 68
Intracellular Trafficking Mechanisms of Synaptic Dysfunction in Alzheimer’s Disease
Perdigão, C., Barata, M. A., Araújo, M. N. C. D. F., Mirfakhar, F. S., Castanheira, J., & Almeida, C. G. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.00072 · Cited by 66
Decreased plasma β‐amyloid in the Alzheimer's disease APP A 673 Tvariant carriers
Martiskainen, H., Herukka, S., Stančáková, A., Paananen, J., Soininen, H., Kuusisto, J., Laakso, M., & Hiltunen, M. (2017) · Annals of Neurology · doi:10.1002/ana.24969 · Cited by 64
rs34331204 regulates TSPAN13 expression and contributes to Alzheimer’s disease with sex differences
Hu, Y., Zhang, H., Liu, B., Gao, S., Wang, T., Han, Z., International Genomics of Alzheimer’s Project (IGAP), Ji, X., & Liu, G. (2020) · Brain · doi:10.1093/brain/awaa302 · Cited by 62
Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-58510-9 · Cited by 60
Genetics of Alzheimer’s disease: From pathogenesis to clinical usage
Shao, W., Peng, D., & Wang, X. (2017) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2017.06.074 · Cited by 64
The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease
Bossaerts, L., Cacace, R., & Broeckhoven, C. V. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00536-w · Cited by 56
ABCA7 p.G215S as potential protective factor for Alzheimer's disease
Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, J. R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al‐Sarraj, S., Brown, K. S., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.04.004 · Cited by 55
Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner, M., Lorenz, G., Volk, A. E., Brunet, T., Edbauer, D., Berutti, R., Zhao, C., Anderl‐Straub, S., Bertram, L., Danek, A., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01271-2 · Cited by 61
From Common to Rare Variants: The Genetic Component of Alzheimer Disease
Nicolas, G., Charbonnier, C., & Campion, D. (2016) · Human Heredity · doi:10.1159/000452256 · Cited by 50
Lysophosphatidylcholine export by human ABCA7
Tomioka, M., Toda, Y., Manucat-Tan, N. B., Akatsu, H., Fukumoto, M., Kono, N., Arai, H., Kioka, N., & Ueda, K. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2017.03.012 · Cited by 50
Molecular Genetics of Early- and Late-Onset Alzheimer’s Disease
Uddin, M. S., Hasana, S., Hossain, M. F., Islam, M. S., Behl, T., Perveen, A., Hafeez, A., & Ashraf, G. M. (2020) · Current Gene Therapy · doi:10.2174/1566523220666201123112822 · Cited by 53
The impact of rare genetic variants on Alzheimer disease
Deyn, L. D., & Sleegers, K. (2025) · Nature Reviews Neurology · doi:10.1038/s41582-025-01062-1 · Cited by 46
Self-citationKou, I., Watanabe, K., Takahashi, Y., Momozawa, Y., Khanshour, A. M., Grauers, A., Zhou, H., Liu, G., Fan, Y., Takeda, K., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-29011-7 · Cited by 42
Gao, C., Shen, X., Tan, Y., & Chen, S. (2022) · Journal of Neuroinflammation · doi:10.1186/s12974-022-02580-1 · Cited by 48
INPP5D mRNA Expression and Cognitive Decline in Japanese Alzheimer’s Disease Subjects
Yoshino, Y., Yamazaki, K., Ozaki, Y., Sao, T., Yoshida, T., Mori, T., Mori, Y., Ochi, S., Iga, J.-I., & Ueno, S.-I. (2017) · Journal of Alzheimer's Disease · doi:10.3233/jad-161211 · Cited by 41
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
Acosta‐Uribe, J., Aguillon, D. F., Cochran, J. N., Giraldo, M., Madrigal, L., Killingsworth, B. W., Singhal, R., Labib, S., Alzate, D., Velilla, L. M., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01035-9 · Cited by 43
Nous, A., Seynaeve, L., Feys, O., Wens, V., Tiège, X. D., van Mierlo, P., Baroumand, A. G., Nieboer, K., Allemeersch, G., Mangelschots, S., et al. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-023-01373-9 · Cited by 40
Self-citationEmerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
Perrone, F., Cacace, R., van der Zee, J., & Broeckhoven, C. V. (2021) · Genome Medicine · doi:10.1186/s13073-021-00878-y · Cited by 38
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
Nuytemans, K., Maldonado, L. G., Ali, A., John‐Williams, K., Beecham, G. W., Martin, E. R., Scott, W. K., & Vance, J. M. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000044 · Cited by 37
ABCA7 loss-of-function variants, expression, and neurologic disease risk
Allen, M., Lincoln, S., Corda, M., Watzlawik, J. O., Carrasquillo, M. M., Reddy, J. S., Burgess, J. D., Nguyen, T., Malphrus, K. G., Petersen, R. C., et al. (2017) · Neurology Genetics · doi:10.1212/nxg.0000000000000126 · Cited by 37
Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants
Logue, M. W., Lancour, D., Farrell, J. J., Simkina, I., Fallin, M. D., Lunetta, K. L., & Farrer, L. A. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00592 · Cited by 35
The ABC's of Alzheimer risk gene ABCA7
Duchateau, L., Wawrzyniak, N., & Sleegers, K. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13805 · Cited by 35
Self-citationAfrican American exome sequencing identifies potential risk variants at Alzheimer disease loci
N’Songo, A., Carrasquillo, M. M., Wang, X., Burgess, J. D., Nguyen, T., Asmann, Y. W., Serie, D., Younkin, S. G., Allen, M., Pedraza, O., et al. (2017) · Neurology Genetics · doi:10.1212/nxg.0000000000000141 · Cited by 35
New Insights into the Molecular Bases of Familial Alzheimer’s Disease
D’Argenio, V., & Sarnataro, D. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10020026 · Cited by 35
Relation between plasma and brain lipids
Wellington, C. L., & Frikke-Schmidt, R. (2016) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000291 · Cited by 33
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation
den Bossche, T. V., Sleegers, K., Cuyvers, E., Engelborghs, S., Sieben, A., Roeck, A. D., Cauwenberghe, C. V., Vermeulen, S., den Broeck, M. V., Laureys, A., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002628 · Cited by 33
Self-citationCryo‐EM structures of human ABCA7 provide insights into its phospholipid translocation mechanisms
Le, L. T. M., Thompson, J. R., Dehghani‐Ghahnaviyeh, S., Pant, S., Dang, P. X., French, J. B., Kanikeyo, T., Tajkhorshid, E., & Alam, A. (2023) · The EMBO Journal · doi:10.15252/embj.2022111065 · Cited by 31
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
Guennec, K. L., Tubeuf, H., Hannequin, D., Wallon, D., Quenez, O., Rousseau, S., Richard, A., Deleuze, J., Boland, A., Frébourg, T., et al. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-170981 · Cited by 29
Lee, W., Choi, S. H., Shea, M. G., Cheng, P., Dombroski, B. A., Pitsillides, A., Heard‐Costa, N. L., Wang, H., Bulekova, K., Kuzma, A. B., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.14283 · Cited by 28
Association of rare variants in neurodegenerative genes with familial Alzheimer’s disease
Zhang, W., Jiao, B., Xiao, T., Liu, X., Liao, X., Xiao, X., Guo, L., Yuan, Z., Yan, X., Tang, B., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51197 · Cited by 28
Zhao, L., He, Z., Zhang, D., Wang, G. T., Renton, A. E., Vardarajan, B. N., Nothnagel, M., Goate, A., Mayeux, R. P., & Leal, S. M. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.09.006 · Cited by 27
Nicolas, G., Zaréa, A., Lacour, M., Quenez, O., Rousseau, S., Richard, A., Bonnevalle, A., Schramm, C., Olaso, R., Sandron, F., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101082 · Cited by 26
ABCA7, a Genetic Risk Factor Associated with Alzheimer’s Disease Risk in African Americans
Stepler, K. E., Gillyard, T. R., Reed, C. B., Avery, T. M., Davis, J. S., & Robinson, R. A. S. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-215306 · Cited by 28
ABCA7 Regulates Brain Fatty Acid Metabolism During LPS-Induced Acute Inflammation
Aikawa, T., Ren, Y., Holm, M., Asmann, Y. W., Alam, A., Fitzgerald, M. L., Bu, G., & Kanekiyo, T. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.647974 · Cited by 24
Ciani, M., Bonvicini, C., Scassellati, C., Carrara, M., Maj, C., Fostinelli, S., Binetti, G. G., Ghidoni, R., & Benussi, L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20163903 · Cited by 24
ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer’s Disease
Talebi, M., Delpak, A., Khalaj-kondori, M., Sadigh‐Eteghad, S., Talebi, M., Mehdizadeh, E., & Majdi, A. (2019) · Journal of Molecular Neuroscience · doi:10.1007/s12031-019-01420-x · Cited by 22
High-density lipoprotein-related cholesterol metabolism in Alzheimer's disease
Pedrini, S., Chatterjee, P., Hone, E., & Martins, R. N. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15170 · Cited by 22
Bossaerts, L., Hens, E., Cacace, R., Asselbergh, B., & Broeckhoven, C. V. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01346-3 · Cited by 21
ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer’s Disease
Qian, X., Chen, S.-Y., Liu, X., & Tang, H.-D. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03414-8 · Cited by 22
Vascular endothelial cells: a fundamental approach for brain waste clearance
Wei, H., Jiang, H., Zhou, Y., Xiao, X., Zhou, C., & Ji, X. (2022) · Brain · doi:10.1093/brain/awac495 · Cited by 20
Meta-Analysis of the Association between Variants in ABCA7 and Alzheimer’s Disease
Ma, F.-C., Wang, H.-F., Cao, X., Tan, C., Tan, L., & Yu, J. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-180107 · Cited by 21
Jiao, B., Xiao, X., Yuan, Z., Guo, L., Liao, X., Zhou, Y., Zhou, L., Wang, X., Liu, X., Liu, H., et al. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01258-1 · Cited by 20
ABCA7 Genotypes Confer Alzheimer’s Disease Risk by Modulating Amyloid-β Pathology
Zhao, Q., Initiative, A. D. N., Wan, Y., Wang, H.-F., Sun, F.-R., Hao, X., Tan, M., Tan, C., Zhang, D., Tan, L., et al. (2016) · Journal of Alzheimer s Disease · doi:10.3233/jad-151005 · Cited by 19
Kunkle, B. W., Carney, R. M., Kohli, M. A., Naj, A. C., Hamilton-Nelson, K. L., Whitehead, P. L., Wang, L., Lang, R., Cuccaro, M. L., Vance, J. M., et al. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.04.014 · Cited by 19
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
Verheijen, J., van der Zee, J., Gijselinck, I., den Bossche, T. V., Dillen, L., Heeman, B., Gómez‐Tortosa, E., Lladó, A., Sánchez‐Valle, R., Graff, C., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.10.012 · Cited by 21
Self-citationJayadev, S. (2022) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000001125 · Cited by 21
Rare ABCA7 variants in 2 German families with Alzheimer disease
May, P., Pichler, S., Hartl, D., Bobbili, D. R., Mayhaus, M., Spaniol, C., Kurz, A., Balling, R., Schneider, J. G., & Riemenschneider, M. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000224 · Cited by 18
Tayran, H., Yılmaz, E., Bhattarai, P., Min, Y., Wang, X., Ma, Y., Wang, N., Jeong, I., Nelson, N. N., Kassara, N., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100642 · Cited by 18
The Abca7V1613M variant reduces Aβ generation, plaque load, and neuronal damage
Butler, C. A., Mendoza‐Arvilla, A., Milinkeviciute, G., Cunha, C. D., Kawauchi, S., Rezaie, N., Liang, H. Y., Javonillo, D. I., Thach, A., Wang, S., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13783 · Cited by 15
Searching the Dark Genome for Alzheimer’s Disease Risk Variants
Raybould, R., & Sims, R. (2021) · Brain Sciences · doi:10.3390/brainsci11030332 · Cited by 17
Hoogmartens, J., Hens, E., Engelborghs, S., De Deyn, P. P., van der Zee, J., Van Broeckhoven, C., & Cacace, R. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.03.011 · Cited by 17
Self-citationBossaerts, L., Hens, E., Hanseeuw, B. J., Vandenberghe, R. R., Cras, P. P., Deyn, P. P. D., Engelborghs, S., & Broeckhoven, C. V. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.04.023 · Cited by 17
Self-citationPan, G., King, A. E., Wu, F., Simpson, S., Woodhouse, A., Phipps, A., & Vickers, J. C. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101402 · Cited by 19
Whole‐exome rare‐variant analysis of Alzheimer's disease and related biomarker traits
Küçükali, F., Neumann, A., Dongen, J. V., Pooter, T. D., Joris, G., Rijk, P. D., Ohlei, O., Dobričić, V., Bos, I., Vos, S. J. B., et al. (2022) · Alzheimer s & Dementia · doi:10.1002/alz.12842 · Cited by 16
Self-citationStepler, K. E., & Robinson, R. A. S. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-05542-4_1 · Cited by 15
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Campbell, A. S., Ho, C. C. G., Atık, M., Allen, M., Lincoln, S., Malphrus, K., Nguyen, T., Oatman, S. R., Corda, M., Conway, O., et al. (2022) · Neurology Genetics · doi:10.1212/nxg.0000000000000655 · Cited by 14
An inclusive study of recent advancements in Alzheimer's disease: A comprehensive review
Singh, S., Mahajan, M., Kumar, D., Singh, K., Chowdhary, M., & Amit (2023) · Neuropeptides · doi:10.1016/j.npep.2023.102369 · Cited by 15
ABCA 7 and risk of dementia and vascular disease in the Danish population
Kjeldsen, E. W., Tybjærg‐Hansen, A., Nordestgaard, B. G., & Frikke‐Schmidt, R. (2017) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.506 · Cited by 14
Tosto, G., & Reitz, C. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.09.001 · Cited by 14
EIF2AK3 variants in Dutch patients with Alzheimer's disease
Wong, T. H., van der Lee, S. J., van Rooij, J., Meeter, L. H. H., Frick, P., Melhem, S., Seelaar, H., Ikram, M. A., Rozemüller, A. J. M., Holstege, H. H., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.08.016 · Cited by 15
Early‐onset Alzheimer's disease explained by polygenic risk of late‐onset disease?
Mantyh, W. G., Cochran, J. N., Taylor, J. W., Broce, I., Geier, E. G., Bonham, L. W., Anderson, A. G., Sirkis, D. W., Joie, R. L., Iaccarino, L., et al. (2023) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12482 · Cited by 12
Translating Alzheimer’s Disease Mechanisms into Therapeutic Opportunities
Li, J., Wang, L., Zhang, X., Shi, J., Zhu, Y. Z., Wang, H., Zhu, X., Zhu, Q., & Luo, J. (2025) · Biomolecules · doi:10.3390/biom15091290 · Cited by 13
Metadata
- Authors
- Cuyvers, E., De Roeck, A., Van den Bossche, T., Van Cauwenberghe, C., Bettens, K., Vermeulen, S., Mattheijssens, M., Peeters, K., Engelborghs, S., Vandenbulcke, M., Vandenberghe, R., De Deyn, P. P., Van Broeckhoven, C., & Sleegers, K.
- Affiliations
- University of Antwerp (BE)
- Universitair Ziekenhuis Leuven (BE)
- Corresponding author
- Sleegers, Kristel
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 14
- Issue
- 8
- Pages
- 814-822
- ISSN
- 1474-4422 (ISSN-L)
- OpenAlex
- W2168215272
- Cited by
- 152
- References
- 34
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 15 · 2023: 8 · 2022: 17 · 2021: 11 · 2020: 15 · 2019: 12 · 2018: 16 · 2017: 20 · 2016: 22 · 2015: 4
- FWCI
- 15.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Lirias (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- 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, genetic risk variants, rare variants, founder effect, loss-of-function mutations, nonsense-mediated mRNA decay, Flanders, Alzheimer's disease pathogenesis, targeted sequencing, intronic variants, postmortem brain
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Belgium, Female, Gene Frequency, Humans, Male, Middle Aged, Mutation, Cohort Studies, Sequence Analysis, DNA, ATP-Binding Cassette Transporters, Polymorphism, Single Nucleotide, 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
