Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition
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The accumulation of brain amyloid β (A β) is one of the main pathological hallmarks of Alzheimer’s disease (AD). However, the role of brain amyloid deposition in the development of AD and the genetic variants associated with this process remain unclear. In this study, we sought to identify associations between A β deposition and an a priori evidence based set of 1610 genetic markers, genotyped from 505 unrelated individuals (258 A β+ and 247 A β−) enrolled in the Australian Imaging, Biomarker & Lifestyle (AIBL) study. We found statistically significant associations for 6 markers located within intronic regions of 6 genes, including AC103796.1-BDNF, PPP3R1, NGFR, KL, ABCA7 & CALHM1. Although functional studies are required to elucidate the role of these genes in the accumulation of A β and their potential implication in AD pathophysiology, our findings are consistent with results obtained in previous GWAS efforts.
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Calcineurin subunit 2 expression decreases following TBI, and its decrease may confer susceptibility to Alzheimer's disease.
“It has been previously reported that calcineurin subunit 2 expression decreases following TBI [165, 166] and its decrease may confer susceptibility to AD [120, 156].”
From Early onset senescence and cognitive impairment in a murine model of repeated mTBI (2021) · cites this paper as [156]
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Self-citationEarly onset senescence and cognitive impairment in a murine model of repeated mTBI
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- Authors
- Vacher, M., Porter, T., Villemagne, V. L., Milicic, L., Peretti, M., Fowler, C., Martins, R., Rainey-Smith, S., Ames, D., Masters, C. L., Rowe, C. C., Doecke, J. D., & Laws, S. M.
- Affiliations
- Commonwealth Scientific and Industrial Research Organisation (AU)
- Edith Cowan University (AU)
- The University of Melbourne (AU)
- National Ageing Research Institute (AU)
- Corresponding author
- Vacher, Michael
- ORCID
- Venue
- Scientific Reports
- Published
- 2019-11-19
- Volume
- 9
- Issue
- 1
- Pages
- 17069-17069
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC6863876
- OpenAlex
- W2990019911
- Cited by
- 26
- References
- 72
- Citations by year
- 2025: 3 · 2024: 7 · 2023: 4 · 2022: 3 · 2021: 6 · 2020: 3
- FWCI
- 2.04
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Murdoch University Research Portal (submittedVersion)
- Australasian Journal of Paramedicine (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- Funders
- Commonwealth Scientific and Industrial Research Organisation (OD2-208219)
- 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
- Alzheimer's disease, amyloid-beta deposition, single nucleotide polymorphisms, genetic association, intronic variants, brain-derived neurotrophic factor, PPP3R1, nerve growth factor receptor, KL, ABCA7, CALHM1, genetic risk markers
- MeSH terms
- Mitochondrial Precursor Protein Import Complex Proteins, Aged, Alzheimer Disease, Apolipoproteins E, Australia, Brain, Female, Humans, Male, Biomarkers, Amyloid beta-Peptides, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Genetic Association Studies
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 ›
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