Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population.
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.
Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Akinori
A
Miyashita
Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Yanan
Y
Wen
Department of Medical Informatics, Niigata University, Niigata, Japan.
Nobutaka
N
Kitamura
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Etsuro
E
Matsubara
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Takeshi
T
Kawarabayashi
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Mikio
M
Shoji
Department of Geriatric and Complementary Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Naoki
N
Tomita
Department of Geriatric and Complementary Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Katsutoshi
K
Furukawa
Department of Geriatric and Complementary Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Hiroyuki
H
Arai
Department of Psychiatry, University of Tsukuba, Tsukuba, Japan.
Takashi
T
Asada
Department of Neurology, Maebashi Red Cross Hospital, Maebashi, Japan.
Yasuo
Y
Harigaya
Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Masaki
M
Ikeda
Department of Neurology, Gunma University Graduate School of Medicine, Maebashi, Japan.
Masakuni
M
Amari
Department of Geriatric Medicine, Tokyo Medical University, Tokyo, Japan.
Haruo
H
Hanyu
Division of Clinical Research, Kurihama Alcoholism Center, Yokosuka, Japan.
Susumu
S
Higuchi
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Masatoyo
M
Nishizawa
Higashi Niigata Hospital, Niigata, Japan.
Masaichi
M
Suga
Kawase Neurology Clinic, Sanjo, Japan.
Yasuhiro
Y
Kawase
Choju Medical Institute, Fukushimura Hospital, Toyohashi, Japan.
Hiroyasu
H
Akatsu
Imagawa Clinic, Osaka, Japan.
Masaki
M
Imagawa
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Tsuyoshi
T
Hamaguchi
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Masahito
M
Yamada
Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan.
Takashi
T
Morihara
Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan.
Masatoshi
M
Takeda
Kurashiki Heisei Hospital, Kurashiki, Japan.
Takeo
T
Takao
Kinoko Espoir Hospital, Kasaoka, Japan.
Kenji
K
Nakata
Kinoko Espoir Hospital, Kasaoka, Japan.
Ken
K
Sasaki
Watanabe Hospital, Tottori, Japan.
Ken
K
Watanabe
Department of Neurology, Tottori University, Yonago, Japan.
Kenji
K
Nakashima
Department of Biological Regulation, Section of Environment and Health Science, Tottori University, Yonago, Japan.
Katsuya
K
Urakami
Town Office, Onan, Japan.
Terumi
T
Ooya
Department of Clinical Pharmacology, Fukuoka University, Fukuoka, Japan.
Mitsuo
M
Takahashi
Department of Psychiatry, National Hospital Organization, Hizen Psychiatric Center, Saga, Japan.
Takefumi
T
Yuzuriha
Ureshino-Onsen Hospital, Saga, Japan.
Kayoko
K
Serikawa
Ureshino-Onsen Hospital, Saga, Japan.
Seishi
S
Yoshimoto
Ureshino-Onsen Hospital, Saga, Japan.
Ryuji
R
Nakagawa
Department of Pathology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan.
Yuko
Y
Saito
Department of Neuropathology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
Hiroyuki
H
Hatsuta
Department of Neuropathology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
Shigeo
S
Murayama
Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Akiyoshi
A
Kakita
Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Hitoshi
H
Takahashi
Graduate School of Health Sciences, Gunma University, Maebashi, Japan.
Haruyasu
H
Yamaguchi
Department of Medical Informatics, Niigata University, Niigata, Japan.
Kohei
K
Akazawa
National Center Hospital of Neurology and Psychiatry, Tokyo, Japan.
Ichiro
I
Kanazawa
Department of Neuropathology, Doshisha University, Kizugawa, Japan.
Yasuo
Y
Ihara
Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Takeshi
T
Ikeuchi
Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
Ryozo
R
Kuwano
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*
D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human
Alzheimer's disease; Japanese; SNP; TREM2; rare variants