Miyashita Akinori, Wen Yanan, Kitamura Nobutaka, Matsubara Etsuro, Kawarabayashi Takeshi, Shoji Mikio, Tomita Naoki, Furukawa Katsutoshi, Arai Hiroyuki, Asada Takashi, Harigaya Yasuo, Ikeda Masaki, Amari Masakuni, Hanyu Haruo, Higuchi Susumu, Nishizawa Masatoyo, Suga Masaichi, Kawase Yasuhiro, Akatsu Hiroyasu, Imagawa Masaki, Hamaguchi Tsuyoshi, Yamada Masahito, Morihara Takashi, Takeda Masatoshi, Takao Takeo, Nakata Kenji, Sasaki Ken, Watanabe Ken, Nakashima Kenji, Urakami Katsuya, Ooya Terumi, Takahashi Mitsuo, Yuzuriha Takefumi, Serikawa Kayoko, Yoshimoto Seishi, Nakagawa Ryuji, Saito Yuko, Hatsuta Hiroyuki, Murayama Shigeo, Kakita Akiyoshi, Takahashi Hitoshi, Yamaguchi Haruyasu, Akazawa Kohei, Kanazawa Ichiro, Ihara Yasuo, Ikeuchi Takeshi, Kuwano Ryozo
Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Department of Medical Informatics, Niigata University, Niigata, Japan.
J Alzheimers Dis. 2014;41(4):1031-8. doi: 10.3233/JAD-140225.
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.
最近有研究表明，TREM2的罕见非同义变体与高加索人群的阿尔茨海默病（AD）相关。我们在此使用一个特征明确的日本样本集进行了一项重复研究，该样本集包括2190例晚发性AD（LOAD）病例和2498例对照。我们采用TaqMan和双脱氧测序方法，对Guerreiro等人（2013年）报道的TREM2的10个非同义变体（Q33X、Y38C、R47H、T66M、N68K、D87N、T96K、R98W、H157Y和L211P）进行了基因分型。只有三个变体，即R47H、H157Y和L211P，具有多态性（次要等位基因频率[MAF]范围为0.0002 - 0.0059）；然而，在这些变体中未观察到与LOAD有显著关联。考虑到所检测变体的MAF较低以及我们的研究样本量，需要用更大的样本集进行进一步的基因分析，以确定TREM2在日本人中是否与LOAD相关。
