Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China
Abstract
Recently, 3 rare coding variants significantly associated with Alzheimer's disease (AD) risk have been identified in western populations using whole exome sequencing method, including p.R47H in TREM2, p.V232M in PLD3, and p.T835M in UNC5C. To examine whether these variants are genetic risk factors in patients with AD from mainland China, we sequenced exon 2 of TREM2, exon 9 of PLD3, and exon 15 of UNC5C in Chinese Han population including 360 patients with AD and 400 control individuals. As a result, none of these 3 variants were identified in all subjects, however, 1 novel variant (p.A130V) in TREM2 and 4 novel variants (p.Q860H, p.T837K, p.S843G, and p.V836V) in UNC5C were detected in unrelated patients with late-onset AD. These findings suggest the 3 rare coding variants might not play an important role in AD risk in mainland China.
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To date, thousands of Chinese and Japanese have been screened for the TREM2 p.R47H variant, and only three Japanese carriers have been reported.
“To date, thousands of Chinese and Japanese have been screened for p.R47H variant, and only three Japanese carriers of this variant have been reported (Table 4) [38–42].”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [39]
Genetic studies in East Asian populations have been unable to replicate the significance of the TREM2 p.R47H variant because it is rarely found in this population.
“However, genetic studies in East Asian populations have been unable to replicate the significance of the p.R47H variant in TREM2, because it is rarely found in this population.”
From Genetics of Alzheimer’s disease: An East Asian perspective (2023) · cites this paper as [39]
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- Authors
- Jiao, B., Liu, X., Tang, B., Hou, L., Zhou, L., Zhang, F., Zhou, Y., Guo, J., Yan, X., & Shen, L.
- Affiliations
- Central South University (CN)
- Corresponding author
- Shen, Lu
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2014-10
- Volume
- 35
- Issue
- 10
- Pages
- 2422.e9-2422.e11
- ISSN
- 0197-4580 (ISSN-L)
- OpenAlex
- W2075353928
- Cited by
- 66
- References
- 2
- Citations by year
- 2025: 3 · 2024: 2 · 2023: 4 · 2022: 7 · 2021: 8 · 2020: 6 · 2019: 4 · 2018: 11 · 2017: 5 · 2016: 6 · 2015: 8 · 2014: 2
- FWCI
- 4.65
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurobiology of Aging (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (81171068)
- National Key Research and Development Program of China (2011CB510000)
- 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
- Alzheimer's disease, TREM2, PLD3, UNC5C, rare coding variants, genetic risk factors, late-onset Alzheimer's disease, novel variants, Han Chinese, genetic association
- MeSH terms
- Netrin Receptors, Aged, Alzheimer Disease, China, Exodeoxyribonucleases, Female, Humans, Male, Membrane Glycoproteins, Middle Aged, Phospholipase D, Receptors, Cell Surface, Receptors, Immunologic, Risk Factors, Genetic Variation, Asian People, Genetic Association Studies
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