The −48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain
Open accessAbstract
Mutations in the presenilin 1 gene (PS1) account for the majority of early onset, familial, autosomal dominant forms of Alzheimer's disease (AD), whereas its role in other late onset forms of AD remains unclear. A -48 C/T polymorphism in the PS1 promoter has been associated with an increased genetic risk in early onset complex AD and moreover has been shown to influence the expression of the PS1 gene. This raises the possibility that previous conflicting findings from association studies with homozygosity for the PS1 intron 8 polymorphism might be the result of linkage disequilibrium with the -48 CC genotype. Here we provide further evidence of increased risk of AD associated with homozygosity for the -48 CC genotype (odds ratio=1.6). We also report a phenotypic correlation with Abeta(40), Abeta(42(43)), and total Abeta load in AD brains. The -48 CC genotype was associated with 47% greater total Abeta load (p<0.003) compared to CT + TT genotype bearers. These results suggest that the -48 C/T polymorphism in the PS1 promoter may increase the risk of AD, perhaps by altering PS1 gene expression and thereby influencing Abeta load.
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
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?
Oligomeric Aβ rather than fibril Aβ is regarded as the toxic species of this peptide.
“oligomeric Aβ rather than fibril Aβ is regarded as the toxic species of this peptide [143,144,145,146].”
From Mitochondrial Oxidative and Nitrosative Stress and Alzheimer Disease (2020) · cites this paper as [145]
The Discussion reports increased Aβ deposition associated with the PS1 promoter polymorphism, and the Abstract discusses Aβ42(43) as a species suspected to initiate plaque formation; neither passage compares oligomeric and fibrillar Aβ toxicity. Searches for oligomeric Aβ and for soluble oligomers versus fibrillar amyloid found no passage addressing that comparison. Page numbers were not available in our copy. (LLM, conf=0.72)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
De Strooper, B., Saftig, P., Craessaerts, K., Vanderstichele, H., Guhde, G., Annaert, W., Von Figura, K., & Van Leuven, F. (1998) · Nature · doi:10.1038/34910 · Cited by 1,818 · see citing works
Iwatsubo, T., Odaka, A., Suzuki, N., Mizusawa, H., Nukina, N., & Ihara, Y. (1994) · Neuron · doi:10.1016/0896-6273(94)90458-8 · Cited by 1,774 · see citing works
Self-citationAmyloid, the presenilins and Alzheimer’s disease
Hardy, J. (1997) · Trends in Neurosciences · doi:10.1016/s0166-2236(96)01030-2 · Cited by 1,370 · see citing works
Photoactivated γ-secretase inhibitors directed to the active site covalently label presenilin 1
Li, Y.-M., Xu, M., Lai, M.-T., Huang, Q., Castro, J. L., DiMuzio-Mower, J., Harrison, T., Lellis, C., Nadin, A., Neduvelil, J. G., et al. (2000) · Nature · doi:10.1038/35015085 · Cited by 866 · see citing works
Lemere, C. A., Lopera, F., Kosik, K. S., Lendon, C. L., Ossa, J., Saido, T. C., Yamaguchi, H., Ruiz, A., Martinez, A., Madrigal, L., et al. (1996) · Nature Medicine · doi:10.1038/nm1096-1146 · Cited by 487 · see citing works
Cruts, M., van Duijn, C. M., Backhovens, H., den Broeck, M. V., Wehnert, A., Serneels, S., Sherrington, R., Hutton, M., Hardy, J., George‐Hyslop, P. S., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.43 · Cited by 429 · see citing works
The presenilins and Alzheimer's disease
Hutton, M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1639 · Cited by 368 · see citing works
Effects of PS1 Deficiency on Membrane Protein Trafficking in Neurons
Naruse, S., Thinakaran, G., Luo, J.-J., Kusiak, J. W., Tomita, T., Iwatsubo, T., Qian, X., Ginty, D. D., Price, D. L., Borchelt, D. R., et al. (1998) · Neuron · doi:10.1016/s0896-6273(00)80637-6 · Cited by 355 · see citing works
A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia
Bullido, M. J., Artiga, M. J., Recuero, M., Sastre, I., García, M., Aldudo, J., Lendon, C. L., Han, S. W., Morris, J. C., Frank, A., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-69 · Cited by 286 · see citing works
Exploring the Etiology of Alzheimer Disease Using Molecular Genetics
Lendon, C. L. (1997) · JAMA · doi:10.1001/jama.1997.03540340059034 · Cited by 272 · see citing works
Wragg, M. A., Talbot, C. J., Hutton, M., & Goate, A. (1996) · The Lancet · doi:10.1016/s0140-6736(96)91140-x · Cited by 243 · see citing works
Li, J., Xu, M., Zhou, H., Ma, J., & Potter, H. (1997) · Cell · doi:10.1016/s0092-8674(00)80356-6 · Cited by 218 · see citing works
Lambert, J. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.9.1511 · Cited by 132 · see citing works
Murayama, O., Tomita, T., Nihonmatsu, N., Murayama, M., Sun, X., Honda, T., Iwatsubo, T., & Takashima, A. (1999) · Neuroscience Letters · doi:10.1016/s0304-3940(99)00187-1 · Cited by 126 · see citing works
Theuns, J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.325 · Cited by 92 · see citing works
Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility
Theuns, J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.16.2383 · Cited by 86 · see citing works
Regulation of Apoptosis by Presenilin 1
Wolozin, B. L., Alexander, P., & Palacino, J. J. (1998) · Neurobiology of Aging · doi:10.1016/s0197-4580(98)00041-4 · Cited by 60 · see citing works
van Duijn, C. M., Cruts, M., Theuns, J., Gassen, G. V., Backhovens, H., den Broeck, M. V., Wehnert, A., Serneels, S., Albert Hofman, D., & Broeckhoven, C. V. (1999) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200373 · Cited by 50 · see citing works
Vrièze, F. W., Crook, R., Holmans, P., Kehoe, P. G., Owen, M. J., Williams, J. H., Roehl, K., Lahiri, D. K., Shears, S., Booth, J., et al. (1999) · Neuroscience Letters · doi:10.1016/s0304-3940(99)00417-6 · Cited by 40 · see citing works
Mann, D. M. A., Pickering-Brown, S. M., Bayatti, N., Wright, A. E., Owen, F., Iwatsubo, T., & Saido, T. C. (1997) · Neuroscience Letters · doi:10.1016/s0304-3940(97)13342-0 · Cited by 16 · see citing works
Dermaut, B., Roks, G., Tol, J., Rademakers, R., Cruts, M., Houwing‐Duistermaat, J. J., Broeckhoven, C. V., & van Duijn, C. M. (2000) · Neurobiology of Aging · doi:10.1016/s0197-4580(00)82133-8 · Cited by 2 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Iwatsubo T, Odaka N, Suzuki N, Mizusawa H, Nukina N, Ihara Y. Visualisation of A (42,43)-positive and A 40- positive senile plaques with end-specific A monoclonal antibodies: evidence that an initially deposited species is A 1-42(43). Neuron 1995;13:45-53.
Cited by
Sorted by citations
Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective
Tanzi, R. E., & Bertram, L. (2005) · Cell · doi:10.1016/j.cell.2005.02.008 · Cited by 1,849 · see citing works
Molecular 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 · see citing works
Butterfield, D. A., Reed, T., Newman, S. F., & Sultana, R. (2007) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2007.05.037 · Cited by 564 · see citing works
Brown, D. R., & Kozłowski, H. (2004) · Dalton Transactions · doi:10.1039/b401985g · Cited by 343 · see citing works
Role of Oxidative Stress in the Progression of Alzheimer's Disease
Rukhsana Sultana, A., & Butterfield, D. A. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-1222 · Cited by 327 · see citing works
Causative and susceptibility genes for Alzheimer’s disease: a review
Rocchi, A., Pellegrini, S., Siciliano, G., & Murri, L. (2003) · Brain Research Bulletin · doi:10.1016/s0361-9230(03)00067-4 · Cited by 319 · see citing works
Ling, Y., Morgan, K., & Kalsheker, N. (2003) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(03)00133-x · Cited by 224 · see citing works
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Groza, T., Köhler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G. S., Żemojtel, T., Schriml, L. M., Kibbe, W. A., Schofield, P. N., Beck, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.05.020 · Cited by 224 · see citing works
A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques
Dermaut, B., Kumar‐Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., den Broeck, M. V., Vennekens, K., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20083 · Cited by 212 · see citing works
Molecular genetics of Alzheimer's disease: An update
Brouwers, N., Sleegers, K., & Broeckhoven, C. V. (2008) · Annals of Medicine · doi:10.1080/07853890802186905 · Cited by 208 · see citing works
Sultana, R., Perluigi, M., & Butterfield, D. A. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0517-0 · Cited by 215 · see citing works
Rukhsana Sultana, A., Banks, W. A., & Butterfield, D. A. (2009) · Journal of Neuroscience Research · doi:10.1002/jnr.22227 · Cited by 171 · see citing works
Current status on Alzheimer disease molecular genetics: from past, to present, to future
Bettens, K., Sleegers, K., & Broeckhoven, C. V. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq142 · Cited by 167 · see citing works
The genes associated with early-onset Alzheimer’s disease
Dai, M.-H., Zheng, H., Zeng, L.-D., & Zhang, Y. (2017) · Oncotarget · doi:10.18632/oncotarget.23738 · Cited by 171 · see citing works
Dissociation of neuropathology from severity of dementia in late-onset Alzheimer disease
Prohovnik, I., Perl, D. P., Davis, K. L., Libow, L. S., Lesser, G. T., & Haroutunian, V. H. (2006) · Neurology · doi:10.1212/01.wnl.0000191298.68045.50 · Cited by 129 · see citing works
Cioancă, O., Hriţcu, L., Mihăşan, M., & Hăncianu, M. (2013) · Physiology & Behavior · doi:10.1016/j.physbeh.2013.08.006 · Cited by 129 · see citing works
Barone, E., Domenico, F. D., Rukhsana Sultana, A., Coccia, R., Mancuso, C., Marzia Perluigi, A., & Butterfield, D. A. (2012) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2012.03.020 · Cited by 123 · see citing works
Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK
Ritchie, D. L., Adlard, P., Peden, A., Lowrie, S., Grice, M. L., Burns, K., Jackson, R. J., Yull, H. M., Keogh, M. J., Wei, W., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1703-0 · Cited by 114 · see citing works
Redox proteomics and amyloid β-peptide: Insights into Alzheimer disease
Butterfield, D. A., & Boyd‐Kimball, D. (2019) · Journal of Neurochemistry · doi:10.1111/jnc.14589 · Cited by 105 · see citing works
Rukhsana Sultana, A., & Butterfield, D. A. (2009) · Journal of Bioenergetics and Biomembranes · doi:10.1007/s10863-009-9241-7 · Cited by 108 · see citing works
Żekanowski, C., Styczyńska, M., Pepłońska, B., Gabryelewicz, T., Religa, D., Ilkowski, J., Kijanowska-Haładyna, B., Kotapka-Minc, S., Mikkelsen, S., Pfeffer, A., et al. (2003) · Experimental Neurology · doi:10.1016/s0014-4886(03)00384-4 · Cited by 97 · see citing works
Barone, E., Cenini, G., Domenico, F. D., Martin, S. K., Rukhsana Sultana, A., Mancuso, C., Murphy, M. P., Head, E., & Butterfield, D. A. (2010) · Pharmacological Research · doi:10.1016/j.phrs.2010.12.007 · Cited by 92 · see citing works
Mitochondrial Oxidative and Nitrosative Stress and Alzheimer Disease
Butterfield, D. A., & Boyd-Kimball, D. (2020) · Antioxidants · doi:10.3390/antiox9090818 · Cited by 85 · see citing works
Transcriptional regulation and its misregulation in Alzheimer’s disease
Chen, X., Zhang, Y., Xu, H., & Bu, G. (2013) · Molecular Brain · doi:10.1186/1756-6606-6-44 · Cited by 66 · see citing works
Goldman, J. S., & Deerlin, V. M. V. (2018) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0347-7 · Cited by 63 · see citing works
Genetics of Early-Onset Alzheimer Dementia
Rademakers, R., Cruts, M., & Broeckhoven, C. V. (2003) · The Scientific World JOURNAL · doi:10.1100/tsw.2003.39 · Cited by 57 · see citing works
Tau is central in the genetic Alzheimer–frontotemporal dementia spectrum
Dermaut, B., Kumar‐Singh, S., Rademakers, R., Theuns, J., Cruts, M., & Broeckhoven, C. V. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.09.005 · Cited by 56 · see citing works
Candidate Gene Association Studies in Sporadic Alzheimer’s Disease
Combarros, O., Alvarez-Arcaya, A., Sánchez-Guerra, M., Infante, J., & Berciano, J. (2002) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000058332 · Cited by 48 · see citing works
Dermaut, B., Theuns, J., Sleegers, K., Hasegawa, H., den Broeck, M. V., Vennekens, K., Corsmit, E., George‐Hyslop, P. S., Cruts, M., van Duijn, C. M., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340732 · Cited by 48 · see citing works
Theuns, J. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg098 · Cited by 45 · see citing works
Riazanskaia, N., Lukiw, W. J., Grigorenko, A. P., Коровайцева, Г. И., Dvoryanchikov, G. A., Moliaka, Y., Nicolaou, M., Farrer, L. A., Bazan, N. G., & Rogaev, E. I. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001101 · Cited by 44 · see citing works
Cong, L., & Jia, J. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.01.001 · Cited by 43 · see citing works
Jiang, H., & Jia, J. (2008) · Neuroscience Letters · doi:10.1016/j.neulet.2008.10.075 · Cited by 38 · see citing works
Mortality is associated with apolipoprotein E ɛ4 in nondemented adults with Down syndrome
Zigman, W. B., Jenkins, E. C., Tycko, B., Schupf, N., & Silverman, W. P. (2005) · Neuroscience Letters · doi:10.1016/j.neulet.2005.08.002 · Cited by 33 · see citing works
Linkage to chromosome 14q in Alzheimer's disease (AD) patients without psychotic symptoms
Avramopoulos, D., Fallin, M. D., & Bassett, S. (2005) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30074 · Cited by 27 · see citing works
Molecular Genetics of Alzheimer's Disease
Verdile, G., & Martin, R. (2008) · Nucleic acids and molecular biology · doi:10.1007/978-3-540-85383-1_8 · Cited by 25 · see citing works
Prion disease and Alzheimer's disease: pathogenic overlap
Castellani, R. J., Perry, G. L., & Smith, M. A. (2004) · Acta Neurobiologiae Experimentalis · doi:10.55782/ane-2004-1487 · Cited by 24 · see citing works
Combarros, O., Rodero, L., Infante, J., Palacio, E., Llorca, J., Fernández‐Viadero, C., Peña, N., & Berciano, J. (2003) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000071000 · Cited by 22 · see citing works
PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients
Belbin, O., Beaumont, H., Warden, D. R., Smith, A. D., Kalsheker, N. A., & Morgan, K. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2008.02.013 · Cited by 21 · see citing works
Sequence analyses of presenilin mutations linked to familial Alzheimer’s disease
Kim, S. D., & Kim, J. (2008) · Cell Stress and Chaperones · doi:10.1007/s12192-008-0046-0 · Cited by 16 · see citing works
PSEN1 gene polymorphisms in Caucasian Alzheimer's disease: A meta-analysis
Veerabathiran, R., Husain, R. S. A., & Ahmed, S. S. S. J. (2017) · Clinica Chimica Acta · doi:10.1016/j.cca.2017.08.016 · Cited by 14 · see citing works
Wang, Y., & Jia, J. (2009) · Neuroscience Letters · doi:10.1016/j.neulet.2009.02.015 · Cited by 11 · see citing works
Assessment of gene order computing methods for Alzheimer's disease
Hu, B.-Q., Jiang, G., Pang, C.-Y., Wang, S., Liu, Q., Chen, Z., Vanderburg, C. R., Rogers, J. T., Deng, Y., & Huang, X. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-s1-s8 · Cited by 11 · see citing works
Wang, S., & Jia, J. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30968 · Cited by 12 · see citing works
Matsubara‐Tsutsui, M., Yamagata, H. D., Morishima, A., Nakura, J., Mitsuda, N., Kamino, K., Kondo, I., & Miki, T. (2002) · Internal Medicine · doi:10.2169/internalmedicine.41.823 · Cited by 10 · see citing works
Poniah, P., Rashed, A. A., Jalil, J. A., & Ali, E. Z. (2025) · Genes · doi:10.3390/genes16030345 · Cited by 9 · see citing works
Butterfield, D. A. (2010) · Experimental Neurology · doi:10.1016/j.expneurol.2010.12.014 · Cited by 9 · see citing works
Association between presenilin-1 −48C/T polymorphism and Down’s syndrome
Lucarelli, P., Piciullo, A., Palmarino, M., Verdecchia, M., Saccucci, P., Arpino, C., & Curatolo, P. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.05.086 · Cited by 9 · see citing works
Żekanowski, C., Religa, D., Safranow, K., Maruszak, A., Dziedziejko, V., Styczyńska, M., Gacia, M., Golan, M., Pepłońska, B., Chlubek, D., et al. (2004) · Journal of Neural Transmission · doi:10.1007/s00702-004-0218-8 · Cited by 8 · see citing works
Nagano, I., Murakami, T., Shiote, M., Manabe, Y., Hadano, S., Yanagisawa, Y., Ikeda, J., & Abe, K. (2003) · Neurological Research · doi:10.1179/016164103101201733 · Cited by 7 · see citing works
Goumidi, L., Huguet, J.-B., Lambert, J., Frigard, B., Cottel, D., Amouyel, P., & Chartier‐Harlin, M. (2002) · Journal of Neural Transmission · doi:10.1007/s007020200085 · Cited by 6 · see citing works
Presenilin 1 intronic polymorphism in sporadic Alzheimer’s disease in a Northern Chinese population
Fan, C., Huang, X., Song, H., & Jia, J. (2019) · Neuroreport · doi:10.1097/wnr.0000000000001363 · Cited by 3 · see citing works
Single Nucleotide Polymorphism Associated with Late-onset Alzheimer’s Disease
Al-Khedhai, A. A., Arfin, M., ., B. A. A., & ., M. A. A.-J. (2005) · Journal of Medical Sciences(Faisalabad) · doi:10.3923/jms.2005.275.279 · Cited by 2 · see citing works
Predictors of dementia and mortality in Down’s syndrome
Coppus, T. (2008) · EUR Research Repository (Erasmus University Rotterdam)
Unravelling the genetic components of late onset Alzheimer's disease.
Hamilton, G. (2005) · OpenGrey (Institut de l'Information Scientifique et Technique)
(2002) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.575
(2002) · Elsevier eBooks · doi:10.1016/b978-1-898563-87-7.50021-5
Próby wykorzystania komórek macierzystych w terapii wybranych chorób układu nerwowego
Kacperska, M. J., Ksiazek-Winiarek, D. J., Jastrzębski, K., & Glabinski, A. R. (2013) · DOAJ (DOAJ: Directory of Open Access Journals)
Newman, S. F. (2009) · UKnowledge (University of Kentucky)
- Authors
- Lambert, J.-C., Mann, D. M. A., Harris, J. M., Chartier-Harlin, M.-C., Cumming, A., Coates, J., Lemmon, H., StClair, D., Iwatsubo, T., & Lendon, C.
- Affiliations
- Inserm (FR)
- aMolecular Psychiatry Department, Division of Neuroscience, Queen Elizabeth Psychiatry Hospital, University of Birmingham, Birmingham B15 2QZ, UK, bLaboratory Medicine Academic Group, Department of Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK, cINSERM 508, Institut Pasteur de Lille, 1 rue du Professeur Calmette, BP 245, 59019 Lille Cédex, France, dDepartment of Mental Health, Foresterhill, University of Aberdeen, Aberdeen AB25 2ZD, UK, eDepartment of N
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2001-06-01
- Volume
- 38
- Issue
- 6
- Pages
- 353-355
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1734889
- OpenAlex
- W2147663114
- Cited by
- 61
- References
- 21
- Citations by year
- 2025: 1 · 2023: 1 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 4 · 2016: 1 · 2015: 1 · 2013: 4 · 2012: 1
- FWCI
- 3.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › 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
- presenilin 1, Alzheimer's disease, genetic risk, Aβ40, amyloid-beta 42, linkage disequilibrium, late-onset Alzheimer's disease
- MeSH terms
- Aged, Alzheimer Disease, Brain, Female, Gene Frequency, Genotype, Humans, Male, Membrane Proteins, Promoter Regions, Genetic, Amyloid beta-Peptides, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Presenilin-1
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
