Lack of Genetic Association Between TREM2 and Late-Onset Alzheimer's Disease in a Japanese Population

被引：59

作者：

Miyashita, Akinori ^{[1
]}

Wen, Yanan ^{[1
]}

Kitamura, Nobutaka ^{[2
]}

Matsubara, Etsuro ^{[3
]}

Kawarabayashi, Takeshi ^{[3
]}

Shoji, Mikio ^{[3
]}

Tomita, Naoki ^{[4
]}

Furukawa, Katsutoshi ^{[4
]}

Arai, Hiroyuki ^{[4
]}

Asada, Takashi ^{[5
]}

Harigaya, Yasuo ^{[6
]}

Ikeda, Masaki ^{[7
]}

Amari, Masakuni ^{[7
]}

Hanyu, Haruo ^{[8
]}

Higuchi, Susumu ^{[9
]}

Nishizawa, Masatoyo ^{[8
,10
]}

Suga, Masaichi ^{[11
]}

Kawase, Yasuhiro ^{[12
]}

Akatsu, Hiroyasu ^{[13
]}

Imagawa, Masaki ^{[14
]}

Hamaguchi, Tsuyoshi ^{[15
]}

Yamada, Masahito ^{[15
]}

Morihara, Takashi ^{[16
]}

Takeda, Masatoshi ^{[16
]}

Takao, Takeo ^{[17
]}

Nakata, Kenji ^{[18
]}

Sasaki, Ken ^{[18
]}

Watanabe, Ken ^{[19
]}

Nakashima, Kenji ^{[20
]}

Urakami, Katsuya ^{[21
]}

Ooya, Terumi ^{[22
]}

Takahashi, Mitsuo ^{[23
]}

Yuzuriha, Takefumi ^{[24
]}

Serikawa, Kayoko ^{[25
]}

Yoshimoto, Seishi ^{[25
]}

Nakagawa, Ryuji ^{[25
]}

Saito, Yuko ^{[26
]}

Hatsuta, Hiroyuki ^{[27
,28
]}

Murayama, Shigeo ^{[27
,28
]}

Kakita, Akiyoshi ^{[29
]}

Takahashi, Hitoshi ^{[29
]}

Yamaguchi, Haruyasu ^{[30
]}

Akazawa, Kohei ^{[2
]}

Kanazawa, Ichiro ^{[31
]}

Ihara, Yasuo ^{[32
]}

Ikeuchi, Takeshi ^{[1
]}

Kuwano, Ryozo ^{[1
]}

机构：

[1] Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan

[2] Niigata Univ, Dept Med Informat, Niigata, Japan

[3] Hirosaki Univ, Grad Sch Med, Dept Neurol, Hirosaki, Aomori, Japan

[4] Tohoku Univ, Grad Sch Med, Dept Geriatr & Complementary Med, Sendai, Miyagi 980, Japan

[5] Univ Tsukuba, Dept Psychiat, Tsukuba, Ibaraki, Japan

[6] Maebashi Red Cross Hosp, Dept Neurol, Maebashi, Gunma, Japan

[7] Gunma Univ, Grad Sch Med, Dept Neurol, Maebashi, Gunma 371, Japan

[8] Tokyo Med Univ, Dept Geriatr Med, Tokyo 1608402, Japan

[9] Kurihama Alcoholism Ctr, Div Clin Res, Yokosuka, Kanagawa, Japan

[10] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

[11] Higashi Niigata Hosp, Niigata, Japan

[12] Kawase Neurol Clin, Sanjo, Japan

[13] Fukushimura Hosp, Choju Med Inst, Toyohashi, Aichi, Japan

[14] Imagawa Clin, Osaka, Japan

[15] Kanazawa Univ, Grad Sch Med Sci, Dept Neurol & Neurobiol Aging, Kanazawa, Ishikawa, Japan

[16] Osaka Univ, Grad Sch Med, Dept Psychiat, Suita, Osaka, Japan

[17] Kurashiki Heisei Hosp, Kurashiki, Okayama, Japan

[18] Kinoko Espoir Hosp, Kasaoka, Japan

[19] Watanabe Hosp, Tottori, Japan

[20] Tottori Univ, Dept Neurol, Yonago, Tottori, Japan

[21] Tottori Univ, Sect Environm & Hlth Sci, Dept Biol Regulat, Yonago, Tottori, Japan

[22] Town Off, Onan, Japan

[23] Fukuoka Univ, Dept Clin Pharmacol, Fukuoka 81401, Japan

[24] Natl Hosp Org, Hizen Psychiat Ctr, Dept Psychiat, Saga, Japan

[25] Ureshino Onsen Hosp, Saga, Japan

[26] Natl Ctr Hosp Neurol & Psychiat, Dept Pathol, Tokyo, Japan

[27] Tokyo Metropolitan Geriatr Hosp, Dept Neuropathol, Tokyo 173, Japan

[28] Inst Gerontol, Tokyo, Japan

[29] Niigata Univ, Brain Res Inst, Dept Pathol, Niigata, Japan

[30] Gunma Univ, Grad Sch Hlth Sci, Maebashi, Gunma 371, Japan

[31] Natl Ctr Hosp Neurol & Psychiat, Tokyo, Japan

[32] Doshisha Univ, Dept Neuropathol, Kizugawa, Japan

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2014年 / 41卷 / 04期

关键词：

Alzheimer's disease; Japanese; rare variants; SNP; TREM2; GENOME-WIDE ASSOCIATION; IDENTIFIES VARIANTS; COMMON VARIANTS; LOCI; CD2AP; EPHA1; CD33; CLU;

D O I：

10.3233/JAD-140225

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：1031 / 1038

页数：8

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