期刊
JOURNAL OF ALZHEIMERS DISEASE
卷 41, 期 4, 页码 1031-1038出版社
IOS PRESS
DOI: 10.3233/JAD-140225
关键词
Alzheimer's disease; Japanese; rare variants; SNP; TREM2
资金
- 'Japanese Alzheimer's Disease Neuroimaging Initiative' of the New Energy and Industrial Technology Development Organization (NEDO) in Japan [P12009]
- MEXT/JSPS KAKENHI from the Ministry of Education, Culture, Sports, Science and Technology of Japan [24310144, 22129004]
- MEXT KAKENHI from the Ministry of Education, Culture, Sports, Science and Technology of Japan [22790331, 24510275, 24700371]
- Grant for Promotion of Niigata University Research Projects, Japan [24C076]
- Comprehensive Brain Science Network, the Ministry of Education, Culture, Sports, Science and Technology of Japan [221S003]
- National Center for Geriatrics and Gerontology Funds, Obu, Japan [23-42]
- Grants-in-Aid for Scientific Research [22129004, 26460907, 221S0003, 22790331, 26461264, 24700371, 23591231, 24390179, 24510275] Funding Source: KAKEN
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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