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

被引：14

作者：

Tohnai, Genki ^{[1
]}

Nakamura, Ryoichi ^{[1
]}

Sone, Jun ^{[1
]}

Nakatochi, Masahiro ^{[2
]}

Yokoi, Daichi ^{[1
]}

Katsuno, Masahisa ^{[1
]}

Watanabe, Hazuki ^{[3
]}

Watanabe, Hirohisa ^{[4
]}

Ito, Mizuki ^{[1
]}

Li, Yuanzhe ^{[5
]}

Izumi, Yuishin ^{[6
]}

Morita, Mitsuya ^{[7
]}

Taniguchi, Akira ^{[8
]}

Kano, Osamu ^{[9
]}

Oda, Masaya ^{[10
]}

Kuwabara, Satoshi ^{[11
]}

Abe, Koji ^{[12
]}

Aiba, Ikuko ^{[13
]}

Okamoto, Koichi ^{[14
]}

Mizoguchi, Kouichi ^{[15
]}

Hasegawa, Kazuko ^{[16
]}

Aoki, Masashi ^{[17
]}

Hattori, Nobutaka ^{[5
]}

Onodera, Osamu ^{[18
]}

Naruse, Hiroya ^{[19
]}

Mitsui, Jun ^{[19
]}

Takahashi, Yuji ^{[20
]}

Goto, Jun ^{[21
]}

Ishiura, Hiroyuki ^{[19
]}

Morishita, Shinichi ^{[22
]}

Yoshimura, Jun ^{[22
]}

Doi, Koichiro ^{[22
]}

Tsuji, Shoji ^{[19
]}

Nakashima, Kenji ^{[23
]}

Kaji, Ryuji ^{[6
]}

Atsuta, Naoki ^{[1
,24
]}

Sobue, Gen ^{[1
]}

机构：

[1] Nagoya Univ, Dept Neurol, Grad Sch Med, Nagoya, Aichi, Japan

[2] Nagoya Univ Hosp, Stat Anal Sect, Ctr Adv Med & Clin Res, Nagoya, Aichi, Japan

[3] Japanese Red Cross Nagoya Daiichi Hosp, Dept Neurol, Nagoya, Aichi, Japan

[4] Nagoya Univ, Brain & Mind Res Ctr, Nagoya, Aichi, Japan

[5] Juntendo Univ, Dept Neurol, Sch Med, Tokyo, Japan

[6] Tokushima Univ, Inst Biomed Sci, Dept Neurol, Grad Sch, Tokushima, Japan

[7] Jichi Med Univ, Dept Internal Med, Div Neurol, Shimotsuke, Tochigi, Japan

[8] Mie Univ, Grad Sch Med, Dept Neurol, Tsu, Mie, Japan

[9] Toho Univ, Sch Med, Dept Internal Med, Div Neurol, Tokyo, Japan

[10] Vihara Hananosato Hosp, Dept Neurol, Miyoshi, Japan

[11] Chiba Univ, Grad Sch Med, Dept Neurol, Chiba, Japan

[12] Okayama Univ, Grad Sch Med, Dept Neurol, Okayama, Japan

[13] Higashinagoya Natl Hosp, Natl Hosp Org, Dept Neurol, Nagoya, Aichi, Japan

[14] Geriatr Res Inst & Hosp, Dept Neurol, Maebashi, Gunma, Japan

[15] Shizuoka Fuji Hosp, Natl Hosp Org, Dept Neurol, Fujinomiya, Japan

[16] Sagamihara Natl Hosp, Natl Hosp Org, Div Neurol, Sagamihara, Kanagawa, Japan

[17] Tohoku Univ, Sch Med, Dept Neurol, Sendai, Miyagi, Japan

[18] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata, Japan

[19] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

[20] Natl Ctr Neurol & Psychiat, Dept Neurol, Tokyo, Japan

[21] Int Univ Hlth & Welf Mita Hosp, Dept Neurol, Tokyo, Japan

[22] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol, Chiba, Japan

[23] Natl Hosp Org Matsue Med Ctr, Dept Neurol, Matsue, Shimane, Japan

[24] Nagoya Univ, Grad Sch Med, Res Div Dementia & Neurodegenerat Dis, Nagoya, Aichi, Japan

来源：

NEUROBIOLOGY OF AGING | 2018年 / 64卷

基金：

日本学术振兴会;

关键词：

Amyotrophic lateral sclerosis; Sporadic; Japan; TBK1; Variant;

D O I：

10.1016/j.neurobiolaging.2017.12.005

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease, and the etiology of sporadic ALS is generally unknown. The TANK-binding kinase 1 (TBK1) gene was identified as an ALS gene contributing to a predisposition toward ALS. To reveal the frequency and characteristics of variants of the TBK1 gene in sporadic ALS patients in Japan, we analyzed the TBK1 gene by exome sequencing in a large Japanese cohort of 713 sporadic ALS patients and 800 controls. We identified known or potentially toxic rare variants of TBK1 gene in 9 patients (1.26%) with sporadic ALS, including 4 novel missense variants (p.V23I, p.H322R, p.R358C, and p.T478I) and 3 loss-of-function variants (p.R357X, p.P378_I379del, and p.T419_G420del). The odds ratio between sporadic ALS patients and controls was 10.2 (p = 0.008, 95% confidence interval = 1.67-62.47). These findings support the contribution of TBK1 to the etiology of sporadic ALS in Japanese patients. (C) 2017 Elsevier Inc. All rights reserved.

引用

页码：158.e15 / 158.e19

页数：5

共 14 条

[1] Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis [J].

Atsuta, Naoki ;

Watanabe, Hirohisa ;

Ito, Mizuki ;

Tanaka, Fumiaki ;

Tamakoshi, Akiko ;

Nakano, Imaharu ;

Aoki, Masashi ;

Tsuji, Shoji ;

Yuasa, Tatsuhiko ;

Takano, Hirold ;

Hayashi, Hideaki ;

Kuzuhara, Shigeld ;

Sobue, Gen .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 276 (1-2) :163-169

[2] TBK1 is associated with ALS and ALS-FTD in Sardinian patients [J].

Borghero, Giuseppe ;

Pugliatti, Maura ;

Marrosu, Francesco ;

Marrosu, Maria Giovanna ;

Murru, Maria Rita ;

Floris, Gianluca ;

Cannas, Antonino ;

Occhineri, Patrizia ;

Cau, Tea B. ;

Loi, Daniela ;

Ticca, Anna ;

Traccis, Sebastiano ;

Manera, Umberto ;

Canosa, Antonio ;

Moglia, Cristina ;

Calvo, Andrea ;

Barberis, Marco ;

Brunetti, Maura ;

Gibbs, J. Raphael ;

Renton, Alan E. ;

Errichiello, Edoardo ;

Zoledziewska, Magdalena ;

Mulas, Antonella ;

Qian, Yong ;

Din, Jun ;

Pliner, Hannah A. ;

Traynor, Bryan J. ;

Chio, Adriano ;

Logullo, Francesco O. ;

Simone, Isabella ;

Logroscino, Giancarlo ;

Salvi, Fabrizio ;

Bartolomei, Ilaria ;

Capasso, Margherita ;

Caponnetto, Claudia ;

Mandich, Paolo ;

Mancardi, Gianluigi ;

Origone, Paola ;

Conforti, Francesca L. ;

Vita, Giuseppe ;

Messina, Sonia ;

Russo, Massimo ;

Mora, Gabriele ;

Marinou, Kalliopi ;

Sideri, Riccardo ;

Lunetta, Christian ;

Penco, Silvana ;

Mosca, Lorena ;

Pinter, Giuseppe Lauria ;

Corbo, Massimo .

NEUROBIOLOGY OF AGING, 2016, 43 :180.e1-180.e5

[3] Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways [J].

Cirulli, Elizabeth T. ;

Lasseigne, Brittany N. ;

Petrovski, Slave ;

Sapp, Peter C. ;

Dion, Patrick A. ;

Leblond, Claire S. ;

Couthouis, Julien ;

Lu, Yi-Fan ;

Wang, Quanli ;

Krueger, Brian J. ;

Ren, Zhong ;

Keebler, Jonathan ;

Han, Yujun ;

Levy, Shawn E. ;

Boone, Braden E. ;

Wimbish, Jack R. ;

Waite, Lindsay L. ;

Jones, Angela L. ;

Carulli, John P. ;

Day-Williams, Aaron G. ;

Staropoli, John F. ;

Xin, Winnie W. ;

Chesi, Alessandra ;

Raphael, Alya R. ;

McKenna-Yasek, Diane ;

Cady, Janet ;

de Jong, J. M. B. Vianney ;

Kenna, Kevin P. ;

Smith, Bradley N. ;

Topp, Simon ;

Miller, Jack ;

Gkazi, Athina ;

Al-Chalabi, Ammar ;

van den Berg, Leonard H. ;

Veldink, Jan ;

Silani, Vincenzo ;

Ticozzi, Nicola ;

Shaw, Christopher E. ;

Baloh, Robert H. ;

Appel, Stanley ;

Simpson, Ericka ;

lagier-Tourenne, ClotilDe ;

Pulst, Stefan M. ;

Gibson, Summer ;

Trojanowski, John Q. ;

Elman, Lauren ;

McCluskey, Leo ;

Grossman, Murray ;

Shneider, Neil A. ;

Chung, Wendy K. .

SCIENCE, 2015, 347 (6229) :1436-1441

[4] Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia [J].

Freischmidt, Axel ;

Wieland, Thomas ;

Richter, Benjamin ;

Ruf, Wolfgang ;

Schaeffer, Veronique ;

Mueller, Kathrin ;

Marroquin, Nicolai ;

Nordin, Frida ;

Huebers, Annemarie ;

Weydt, Patrick ;

Pinto, Susana ;

Press, Rayomond ;

Millecamps, Stephanie ;

Molko, Nicolas ;

Bernard, Emilien ;

Desnuelle, Claude ;

Soriani, Marie-Helene ;

Dorst, Johannes ;

Graf, Elisabeth ;

Nordstrom, Ulrika ;

Feiler, Marisa S. ;

Putz, Stefan ;

Boeckers, Tobias M. ;

Meyer, Thomas ;

Winkler, Andrea S. ;

Winkelman, Juliane ;

de Carvalho, Mamede ;

Thal, Dietmar R. ;

Otto, Markus ;

Brannstrom, Thomas ;

Volk, Alexander E. ;

Kursula, Petri ;

Danzer, Karin M. ;

Lichtner, Peter ;

Dikic, Ivan ;

Meitinger, Thomas ;

Ludolph, Albert C. ;

Strom, Tim M. ;

Andersen, Peter M. ;

Weishaupt, Jochen H. .

NATURE NEUROSCIENCE, 2015, 18 (05) :631-+

[5] Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort [J].

Gijselinck, Ilse ;

Van Mossevelde, Sara ;

van der Zee, Julie ;

Sieben, Anne ;

Philtjens, Stephanie ;

Heeman, Bavo ;

Engelborghs, Sebastiaan ;

Vandenbulcke, Mathieu ;

De Baets, Greet ;

Baumer, Veerle ;

Cuijt, Ivy ;

Van den Broeck, Marleen ;

Peeters, Karin ;

Mattheijssens, Maria ;

Rousseau, Frederic ;

Vandenberghe, Rik ;

De Jonghe, Peter ;

Cras, Patrick ;

De Deyn, Peter P. ;

Martin, Jean-Jacques ;

Cruts, Marc ;

Van Broeckhoven, Christine .

NEUROLOGY, 2015, 85 (24) :2116-2125

[6]

Kim YH, 2016, BRIT J NEUROSURG, V2016, P1, DOI DOI 10.1155/2016/1489692

[7] A general framework for estimating the relative pathogenicity of human genetic variants [J].

Kircher, Martin ;

Witten, Daniela M. ;

Jain, Preti ;

O'Roak, Brian J. ;

Cooper, Gregory M. ;

Shendure, Jay .

NATURE GENETICS, 2014, 46 (03) :310-+

[8] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study [J].

Majounie, Elisa ;

Renton, Alan E. ;

Mok, Kin ;

Dopper, Elise G. P. ;

Waite, Adrian ;

Rollinson, Sara ;

Chio, Adrian ;

Restagno, Gabriella ;

Nicolaou, Nayia ;

Simon-Sanchez, Javier ;

van Swieten, John C. ;

Abramzon, Yevgeniya ;

Johnson, Janel O. ;

Sendtner, Michael ;

Pamphlett, Roger ;

Orrell, Richard W. ;

Mead, Simon ;

Sidle, Katie C. ;

Houlden, Henry ;

Rohrer, Jonathan D. ;

Morrison, Karen E. ;

Pall, Hardev ;

Talbot, Kevin ;

Ansorge, Olaf ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Sabatelli, Mario ;

Mora, Gabriele ;

Corbo, Massimo ;

Giannini, Fabio ;

Calvo, Andrea ;

Englund, Elisabet ;

Borghero, Giuseppe ;

Foris, Gian Luca ;

Remes, Anne M. ;

Laaksovirta, Hannu ;

McCluskey, Leo ;

Trojanowski, John Q. ;

Van Deerlin, Vivianna M. ;

Schellenberg, Gerard D. ;

Nalls, Michael A. ;

Drory, Vivian E. ;

Lu, Chin-Song ;

Yeh, Tu-Hsueh ;

Ishiura, Hiroyuki ;

Takahashi, Yuji ;

Tsuji, Shoji ;

Le Ber, Isabelle ;

Brice, Alexis ;

Drepper, Carsten .

LANCET NEUROLOGY, 2012, 11 (04) :323-330

[9] Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort [J].

Nakamura, Ryoichi ;

Sone, Jun ;

Atsuta, Naoki ;

Tohnai, Genki ;

Watanabe, Hazuki ;

Yokoi, Daichi ;

Nakatochi, Masahiro ;

Watanabe, Hirohisa ;

Ito, Mizuki ;

Senda, Jo ;

Katsuno, Masahisa ;

Tanaka, Fumiaki ;

Li, Yuanzhe ;

Izumi, Yuishin ;

Morita, Mitsuya ;

Taniguchi, Akira ;

Kano, Osamu ;

Oda, Masaya ;

Kuwabara, Satoshi ;

Abe, Koji ;

Aiba, Ikuko ;

Okamoto, Koichi ;

Mizoguchi, Kouichi ;

Hasegawa, Kazuko ;

Aoki, Masashi ;

Hattori, Nobutaka ;

Tsuji, Shoji ;

Nakashima, Kenji ;

Kaji, Ryuji ;

Sobue, Gen .

NEUROBIOLOGY OF AGING, 2016, 39 :219.e1-219.e8

[10] Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis [J].

Ogaki, Kotaro ;

Li, Yuanzhe ;

Atsuta, Naoki ;

Tomiyama, Hiroyuki ;

Funayama, Manabu ;

Watanabe, Hazuki ;

Nakamura, Ryoichi ;

Yoshino, Hideo ;

Yato, Seiji ;

Tamura, Asako ;

Naito, Yutaka ;

Taniguchi, Akira ;

Fujita, Koji ;

Izumi, Yuishin ;

Kaji, Ryuji ;

Hattori, Nobutaka ;

Sobue, Gen .

NEUROBIOLOGY OF AGING, 2012, 33 (10) :2527.e11-2527.e16

← 1 2 →