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J-GLOBAL ID：201802228640007475   整理番号：18A0484441

散発性筋萎縮性側索硬化症の日本人患者におけるTBK1遺伝子変異体の頻度と特性【Powered by NICT】

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

著者 (38件)： Tohnai Genki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Nakamura Ryoichi (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sone Jun (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Nakatochi Masahiro (Statistical Analysis Section, Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan) ,  Yokoi Daichi (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Katsuno Masahisa (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Watanabe Hazuki (Department of Neurology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Aichi, Japan) ,  Watanabe Hirohisa (Brain and Mind Research Center, Nagoya University, Nagoya, Japan) ,  Ito Mizuki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Li Yuanzhe (Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan) ,  Izumi Yuishin (Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan) ,  Morita Mitsuya (Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan) ,  Taniguchi Akira (Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan) ,  Kano Osamu (Division of Neurology, Department of Internal Medicine, Toho University School of Medicine, Tokyo, Japan) ,  Oda Masaya (Department of Neurology, Vihara Hananosato Hospital, Miyoshi, Japan) ,  Kuwabara Satoshi (Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan) ,  Abe Koji (Department of Neurology, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Aiba Ikuko (Department of Neurology, National Hospital Organization, Higashinagoya National Hospital, Nagoya, Japan) ,  Okamoto Koichi (Department of Neurology, Geriatrics Research Institute and Hospital, Maebashi, Japan) ,  Mizoguchi Kouichi (Department of Neurology, National Hospital Organization, Shizuoka-Fuji Hospital, Fujinomiya, Japan) ,  Hasegawa Kazuko (Division of Neurology, National Hospital Organization, Sagamihara National Hospital, Sagamihara, Japan) ,  Aoki Masashi (Department of Neurology, Tohoku University School of Medicine, Sendai, Japan) ,  Hattori Nobutaka (Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan) ,  Onodera Osamu (Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan) ,  Naruse Hiroya (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Mitsui Jun (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Takahashi Yuji (Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Goto Jun (Department of Neurology, International University of health and Welfare Mita Hospital, Tokyo, Japan) ,  Ishiura Hiroyuki (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Morishita Shinichi (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Yoshimura Jun (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Doi Koichiro (Department of Computational Biology, Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan) ,  Tsuji Shoji (Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan) ,  Nakashima Kenji (Department of Neurology, National Hospital Organization Matsue Medical Center, Matsue, Japan) ,  Kaji Ryuji (Department of Neurology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan) ,  Atsuta Naoki (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sobue Gen (Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sobue Gen (Research Division of Dementia and Neurodegenerative Disease, Nagoya University Graduate School of Medicine, Nagoya, Japan)
資料名： Neurobiology of Aging  (Neurobiology of Aging)
巻： 64  ページ： 158.e15-158.e19  発行年： 2018年 
JST資料番号： W0356A  ISSN： 0197-4580  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 筋萎縮性側索硬化症(ALS)は破壊的な神経学的疾患であり,孤発性ALSの病因は一般に知られていない。TANK結合キナーゼ1(TBK1)遺伝子はALSに向けた素因に寄与するALS遺伝子として同定された。日本における孤発性ALS患者におけるTBK1遺伝子の変異の頻度と特性を明らかにするために,713例の散発性ALS患者と800名の対照者の日本人コホートにおけるエキソーム配列決定によりTBK1遺伝子を解析した。孤発性ALSと9例(1.26%)におけるTBK1遺伝子の既知または潜在的に毒性の稀な変異体を同定し,4種類の新しいミスセンス変異(p.V23I,p.H322R,p.R358C,p.T478I)と3機能喪失変異体(p.R357X,p.P378_I379del,p.T419_G420del)を含む。孤発性ALS患者と対照間のオッズ比は,10.2(p<0.008,95%信頼区間=1.67 62.47)であった。これらの知見は,日本人患者における孤発性ALSの病因へのTBK1の寄与を支持する。Copyright 2018 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： *患者 ,  病因 ,  神経系疾患 ,  ミスセンス突然変異 ,  *筋萎縮性側索硬化症 ,  母集団 ,  *日本 ,  *遺伝子 ,  *遺伝子変異 ,  毒性 ,  信頼区間
準シソーラス用語： オッズ比 ,  エクソーム ,  *日本人 ,  *孤発性筋萎縮性側索硬化症 , 【Automatic Indexing@JST】

著者キーワード (5件)： 筋萎縮性側索硬化症 ,  散発性 ,  日本 ,  TBK1 ,  変異体

分類 (1件)： 神経の基礎医学  (GN01020W)

タイトルに関連する用語 (6件)： 散発性筋萎縮性側索硬化症 ,  日本人 ,  患者 ,  TBK1 ,  遺伝子変異 ,  頻度