Association of GSK3B with Alzheimer disease and frontotemporal dementia
Open accessAbstract
BACKGROUND: Deposits of abnormally hyperphosphorylated tau are a hallmark of several dementias, including Alzheimer disease (AD), and about 10% of familial frontotemporal dementia (FTD) cases are caused by mutations in the tau gene. As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found. OBJECTIVE: To examine the promoter of GSK3B and all 12 exons, including the surrounding intronic sequence, in patients with FTD, patients with AD, and aged healthy subjects to identify single-nucleotide polymorphisms associated with disease. DESIGN, SETTING, AND PARTICIPANTS: Single-nucleotide polymorphism frequency was examined in a case-control cohort of 48 patients with probable AD, 102 patients with FTD, 38 patients with primary progressive aphasia, and 85 aged healthy subjects. Results were followed up in 2 independent AD family samples consisting of 437 multiplex families with AD (National Institute of Mental Health Genetics Initiative AD Study) or 150 sibships discordant for AD (Consortium on Alzheimer's Genetics Study). RESULTS: Several rare sequence variants in GSK3B were identified in the case-control study. An intronic polymorphism (IVS2-68G>A) occurred at more than twice the frequency among patients with FTD (10.8%) and patients with AD (14.6%) than in aged healthy subjects (4.1%). The polymorphism showed association with disease in both follow-up samples independently, although only the Consortium on Alzheimer's Genetics sample showed the same direction of association as the case-control sample. CONCLUSIONS: To our knowledge, this is the first evidence that a gene known to be involved in tau phosphorylation, GSK3B, is associated with risk for primary neurodegenerative dementias. This supports previous work in animal models suggesting that such genes are therapeutic targets.
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Mutations in GSK3B have been linked to both familial and sporadic forms of AD in humans.
“Moreover, mutations in GSK3B have also been linked to both familial and sporadic forms of AD in humans (Schaffer et al., 2008).”
From SYK coordinates neuroprotective microglial responses in neurodegenerative disease (2022) · cites this paper as Schaffer et al., 2008
The Results (Family-Based Cohorts; page unavailable) and Comment report an association between a GSK3B polymorphism and AD in both predominantly sporadic cases and multiplex families. The claim overstates this as a link to GSK3B mutations: the paper identifies an associated polymorphism, with opposite alleles associated in the sporadic and multiplex samples, rather than establishing that mutations cause either form of AD. (LLM, conf=0.86)
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- Authors
- Schaffer, B. A. J., Bertram, L., Miller, B. L., Mullin, K., Weintraub, S., Johnson, N., Bigio, E. H., Mesulam, M., Wiedau-Pazos, M., Jackson, G. R., Cummings, J. L., Cantor, R. M., Levey, A. I., Tanzi, R. E., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Northwestern University (US)
- ORCID
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2008-10-01
- Volume
- 65
- Issue
- 10
- Pages
- 1368-74
- ISSN
- 0003-9942 (ISSN-L)
- PMC
- PMC2841136
- OpenAlex
- W2014905048
- Cited by
- 100
- References
- 37
- Citations by year
- 2026: 6 · 2025: 3 · 2024: 2 · 2023: 3 · 2022: 5 · 2021: 2 · 2020: 2 · 2019: 2 · 2018: 4 · 2017: 3 · 2016: 3 · 2015: 7 · 2014: 8 · 2013: 5 · 2012: 7
- FWCI
- 8.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (P01AG015379, AG13854, AG 025688, P50AG016570, AG-19724, AG 16570, P30AG013854, P50AG025688, P01AG019724)
- National Institute of Mental Health (R01MH060009, R37MH060009, MH60009)
- National Center for Research Resources (UL1RR025741)
- 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
- GSK3B, Alzheimer's disease, frontotemporal dementia, tau phosphorylation, tau kinases, single nucleotide polymorphisms, rare variants, genetic risk, primary progressive aphasia, multiplex families, sibships, candidate genes
- MeSH terms
- Glycogen Synthase Kinase 3 beta, Aged, Aged, 80 and over, Alzheimer Disease, Brain, Dementia, DNA Mutational Analysis, Exons, Female, Genetic Markers, Genetic Testing, Genotype, Humans, Introns, Male, Middle Aged, Mutation, Phosphorylation, Promoter Regions, Genetic, Case-Control Studies, tau Proteins, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Glycogen Synthase Kinase 3
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