Lack of Genetic Association Between TREM2 and Late-Onset Alzheimer's Disease in a Japanese Population
Abstract
Rare non-synonymous variants of TREM2 have recently been shown to be associated with Alzheimer's disease (AD) in Caucasians. We here conducted a replication study using a well-characterized Japanese sample set, comprising 2,190 late-onset AD (LOAD) cases and 2,498 controls. We genotyped 10 non-synonymous variants (Q33X, Y38C, R47H, T66M, N68K, D87N, T96K, R98W, H157Y, and L211P) of TREM2 reported by Guerreiro et al. (2013) by means of the TaqMan and dideoxy sequencing methods. Only three variants, R47H, H157Y, and L211P, were polymorphic (range of minor allele frequency [MAF], 0.0002–0.0059); however, no significant association with LOAD was observed in these variants. Considering low MAF of variants examined and our study sample size, further genetic analysis with a larger sample set is needed to firmly evaluate whether or not TREM2 is associated with LOAD in Japanese.
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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 [42]
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 [42]
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References 32 · Cited by 69
- Authors
- Miyashita, A., Wen, Y., Kitamura, N., Matsubara, E., Kawarabayashi, T., Shoji, M., Tomita, N., Furukawa, K., Arai, H., Asada, T., Harigaya, Y., Ikeda, M., Amari, M., Hanyu, H., Higuchi, S., Nishizawa, M., Suga, M., Kawase, Y., Akatsu, H., Imagawa, M., Hamaguchi, T., Yamada, M., Morihara, T., Takeda, M., Takao, T., Nakata, K., Sasaki, K., Watanabe, K., Nakashima, K., Urakami, K., Ooya, T., Takahashi, M., Yuzuriha, T., Serikawa, K., Yoshimoto, S., Nakagawa, R., Saito, Y., Hatsuta, H., Murayama, S., Kakita, A., Takahashi, H., Yamaguchi, H., Akazawa, K., Kanazawa, I., Ihara, Y., Ikeuchi, T., & Kuwano, R.
- Affiliations
- Brain Research Institute, Niigata University (JP)
- Niigata University (JP)
- Hirosaki University (JP)
- Tohoku University (JP)
- University of Tsukuba (JP)
- Maebashi Red Cross Hospital (JP)
- Gunma University (JP)
- Tokyo Medical University (JP)
- Kurihama Medical and Addiction Center (JP)
- Higashi Niigata Hospital, Niigata, Japan
- Kawase Neurology Clinic, Sanjo, Japan
- Fukushimura Hospital (JP)
- Imagawa Clinic, Osaka, Japan
- Kanazawa University (JP)
- The University of Osaka (JP)
- Kurashiki Heisei Hospital, Kurashiki, Japan
- Kinoko Espoir Hospital, Kasaoka, Japan
- Watanabe Hospital, Tottori, Japan
- Tottori University (JP)
- Town Office, Onan, Japan
- Fukuoka University (JP)
- Hizen Psychiatric Center (JP)
- Ureshino Medical Center (JP)
- National Center of Neurology and Psychiatry (JP)
- Tokyo Metropolitan Institute of Gerontology (JP)
- Doshisha University (JP)
- ORCID
- Miyashita, Akinori
- Wen, Yanan
- Kitamura, Nobutaka
- Matsubara, Etsuro
- Kawarabayashi, Takeshi
- Shoji, Mikio
- Tomita, Naoki
- Furukawa, Katsutoshi
- Asada, Takashi
- Hanyu, Haruo
- Higuchi, Susumu
- Nishizawa, Masatoyo
- Akatsu, Hiroyasu
- Hamaguchi, Tsuyoshi
- Yamada, Masahito
- Takeda, Masatoshi
- Sasaki, Ken
- Watanabe, Ken
- Nakashima, Kenji
- Urakami, Katsuya
- Yuzuriha, Takefumi
- Saito, Yuko
- Hatsuta, Hiroyuki
- Murayama, Shigeo
- Kakita, Akiyoshi
- Takahashi, Hitoshi
- Akazawa, Kohei
- Ihara, Yasuo
- Ikeuchi, Takeshi
- Venue
- Journal of Alzheimer’s Disease
- Publisher
- SAGE Publications
- Published
- 2014-07-25
- Volume
- 41
- Issue
- 4
- Pages
- 1031-1038
- ISSN
- 1387-2877 (ISSN-L)
- 1875-8908
- OpenAlex
- W1530786050
- Cited by
- 69
- References
- 32
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 3 · 2023: 1 · 2022: 7 · 2021: 5 · 2020: 6 · 2019: 5 · 2018: 7 · 2017: 5 · 2016: 5 · 2015: 15 · 2014: 5
- FWCI
- 6.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Alzheimer s Disease (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (221S0003, 24390179, 23591231, 26461264, 26460907)
- 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
- TREM2, late-onset Alzheimer's disease
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Humans, Japan, Male, Membrane Glycoproteins, Middle Aged, Mutation, Receptors, Immunologic, Genetic Predisposition to Disease, Asian People
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