Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains
Open accessAbstract
Late onset Alzheimer's disease (LOAD) etiology is influenced by complex interactions between genetic and environmental risk factors. Large-scale genome wide association studies (GWAS) for LOAD have identified 10 novel risk genes: ABCA7, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, MS4A6A, MS4A6E, and PICALM. We sought to measure the influence of GWAS single nucleotide polymorphisms (SNPs) and gene expression levels on clinical and pathological measures of AD in brain tissue from the parietal lobe of AD cases and age-matched, cognitively normal controls. We found that ABCA7, CD33, and CR1 expression levels were associated with clinical dementia rating (CDR), with higher expression being associated with more advanced cognitive decline. BIN1 expression levels were associated with disease progression, where higher expression was associated with a delayed age at onset. CD33, CLU, and CR1 expression levels were associated with disease status, where elevated expression levels were associated with AD. Additionally, MS4A6A expression levels were associated with Braak tangle and Braak plaque scores, with elevated expression levels being associated with more advanced brain pathology. We failed to detect an association between GWAS SNPs and gene expression levels in our brain series. The minor allele of rs3764650 in ABCA7 is associated with age at onset and disease duration, and the minor allele of rs670139 in MS4A6E was associated with Braak tangle and Braak plaque score. These findings suggest that expression of some GWAS genes, namely ABCA7, BIN1, CD33, CLU, CR1 and the MS4A family, are altered in AD brains.
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Another study found a positive correlation between BIN1 expression levels and later age at onset of AD.
“another found a positive correlation between BIN1 expression levels and later age at onset of the disease [28].”
From Predominant expression of Alzheimer’s disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts (2016) · cites this paper as [28]
BIN1 expression is elevated in AD patients.
“Some studies have shown that BIN1 expression is elevated in AD patients [376, 477].”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [477]
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Protective ApoE variants support neuronal function by effluxing oxidized phospholipids
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Protective ApoE variants support neuronal function by extracting peroxidated lipids
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- Authors
- Karch, C. M., Jeng, A. T., Nowotny, P., Cady, J., Cruchaga, C., & Goate, A. M.
- Affiliations
- Washington University in St. Louis (US)
- Corresponding author
- Goate, Alison M.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2012-11-30
- Volume
- 7
- Issue
- 11
- Pages
- e50976
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3511432
- OpenAlex
- W2170415197
- Cited by
- 328
- References
- 57
- Citations by year
- 2026: 8 · 2025: 12 · 2024: 27 · 2023: 28 · 2022: 18 · 2021: 29 · 2020: 27 · 2019: 30 · 2018: 23 · 2017: 24 · 2016: 22 · 2015: 33 · 2014: 30 · 2013: 16
- FWCI
- 16.81
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Digital Commons@Becker (Washington University School of Medicine) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- American Health Assistance Foundation
- National Institutes of Health
- Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis (P50 AG0568 1)
- National Institute on Aging (R01AG035083, P50AG005681)
- 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 › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- late-onset Alzheimer's disease, Alzheimer's disease risk genes, gene expression, single nucleotide polymorphisms, ABCA7, BIN1, CD33, clusterin, complement receptor 1, MS4A6A, PICALM, age of onset, disease duration, cognitive decline, parietal lobe, genetic risk factors
- MeSH terms
- Aged, 80 and over, Alzheimer Disease, Brain, Female, Gene Expression Regulation, Humans, Immunity, Male, Membrane Proteins, Risk Factors, Synapses, Reproducibility of Results, Case-Control Studies, Age of Onset, ATP-Binding Cassette Transporters, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Clusterin
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