Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases
Abstract
The rare variant A673T in the amyloid-β precursor protein (APP) gene has been shown to reduce the risk of cognitive impairment. We genotyped the variant in 8721 Asian individuals comprising 552 with Alzheimer's disease and vascular dementia, 790 with Parkinson's disease, and 7379 controls. The A673T variant was absent in all of the subjects. Our finding suggests that the A673T protective variant is not relevant in our Asian population. Studies in other ethnic populations would clarify whether this variant is specific to specific races/ethnicities.
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The APP p.A673T variant has never been reported in East Asian populations.
“However, this variant has never been reported in East Asian populations (Table 3) [44, 45].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [44]
Cites
A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738 · see citing works
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Cruchaga, C., Chakraverty, S., Mayo, K., Vallania, F. L. M., Mitra, R. D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031039 · Cited by 320 · see citing works
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Genes associated with Alzheimer's disease: an overview and current status
Giri, M., Lü, Y., & Zhang, M. (2016) · Clinical Interventions in Aging · doi:10.2147/cia.s105769 · Cited by 311 · see citing works
Genetics of Alzheimer’s disease: An East Asian perspective
Miyashita, A., Kikuchi, M., Hara, N., & Ikeuchi, T. (2023) · Journal of Human Genetics · doi:10.1038/s10038-022-01050-z · Cited by 64 · see citing works
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 · see citing works
- Authors
- Ting, S. K. S., Chong, M.-S., Kandiah, N., Hameed, S., Tan, L., Au, W.-L., Prakash, K. M., Pavanni, R., Lee, T.-S., Foo, J.-N., Bei, J.-X., Yu, X.-Q., Liu, J.-J., Zhao, Y., Lee, W.-L., & Tan, E.-K.
- Affiliations
- Singapore General Hospital (SG)
- Tan Tock Seng Hospital (SG)
- National University of Singapore (SG)
- Genome Institute of Singapore (SG)
- Sun Yat-sen University (CN)
- Corresponding author
- Tan, Louis
- Tan, Eng-King
- ORCID
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2013-10
- Volume
- 34
- Issue
- 10
- Pages
- 2441.e7-2441.e8
- ISSN
- 0197-4580 (ISSN-L)
- OpenAlex
- W2038771985
- Cited by
- 26
- References
- 3
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 1 · 2018: 3 · 2017: 2 · 2016: 3 · 2015: 5 · 2014: 5 · 2013: 1
- FWCI
- 3.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion)
- Funders
- National Medical Research Council and Singapore Millennium Foundation
- 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
- amyloid precursor protein, APP gene, Alzheimer's disease, vascular dementia, Parkinson's disease, genetic risk variants, protective genetic variants, Asian populations
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alzheimer Disease, Asia, Female, Genotype, Humans, Male, Middle Aged, Mutation, Risk, Genetic Variation, Dementia, Vascular, Cohort Studies, Amyloid beta-Protein Precursor, Asian People
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