| Literature DB >> 24762945 |
Akinori Miyashita1, Yanan Wen1, Nobutaka Kitamura2, Etsuro Matsubara3, Takeshi Kawarabayashi3, Mikio Shoji3, Naoki Tomita4, Katsutoshi Furukawa4, Hiroyuki Arai4, Takashi Asada5, Yasuo Harigaya6, Masaki Ikeda7, Masakuni Amari7, Haruo Hanyu8, Susumu Higuchi9, Masatoyo Nishizawa10, Masaichi Suga11, Yasuhiro Kawase12, Hiroyasu Akatsu13, Masaki Imagawa14, Tsuyoshi Hamaguchi15, Masahito Yamada15, Takashi Morihara16, Masatoshi Takeda16, Takeo Takao17, Kenji Nakata18, Ken Sasaki18, Ken Watanabe19, Kenji Nakashima20, Katsuya Urakami21, Terumi Ooya22, Mitsuo Takahashi23, Takefumi Yuzuriha24, Kayoko Serikawa25, Seishi Yoshimoto25, Ryuji Nakagawa25, Yuko Saito26, Hiroyuki Hatsuta27, Shigeo Murayama27, Akiyoshi Kakita28, Hitoshi Takahashi28, Haruyasu Yamaguchi29, Kohei Akazawa2, Ichiro Kanazawa30, Yasuo Ihara31, Takeshi Ikeuchi1, Ryozo Kuwano1.
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.Entities:
Keywords: Alzheimer's disease; Japanese; SNP; TREM2; rare variants
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Year: 2014 PMID： 24762945 DOI： 10.3233/JAD-140225
Source DB: PubMed Journal: J Alzheimers Dis ISSN： 1387-2877 Impact factor: 4.472