Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
作者:
Cyril,Pottier [1]
;
Yingxue,Ren [2]
;
Ralph B,Perkerson [1]
;
Matt,Baker [1]
;
Gregory D,Jenkins [3]
;
Marka,van Blitterswijk [1]
;
Mariely,DeJesus-Hernandez [1]
;
Jeroen G J,van Rooij [4]
;
Melissa E,Murray [1]
;
Elizabeth,Christopher [1]
;
Shannon K,McDonnell [3]
;
Zachary,Fogarty [3]
;
Anthony,Batzler [3]
;
Shulan,Tian [3]
;
Cristina T,Vicente [1]
;
Billie,Matchett [1]
;
Anna M,Karydas [5]
;
Ging-Yuek Robin,Hsiung [6]
;
Harro,Seelaar [4]
;
Merel O,Mol [4]
;
Elizabeth C,Finger [7]
;
Caroline,Graff [8]
;
Linn,Öijerstedt [9]
;
Manuela,Neumann [8]
;
Peter,Heutink [9]
;
Matthis,Synofzik [10]
;
Carlo,Wilke [11]
;
Johannes,Prudlo [10]
;
Patrizia,Rizzu [12]
;
Javier,Simon-Sanchez [10]
;
Dieter,Edbauer [12]
;
Sigrun,Roeber [10]
;
Janine,Diehl-Schmid [12]
;
Bret M,Evers [10]
;
Andrew,King [13]
;
M Marsel,Mesulam [10]
;
Sandra,Weintraub [10]
;
Changiz,Geula [12]
;
Kevin F,Bieniek [14]
;
Leonard,Petrucelli [15]
;
Geoffrey L,Ahern [16]
;
Eric M,Reiman [17]
;
Bryan K,Woodruff [18]
;
Richard J,Caselli [19]
;
Edward D,Huey [20]
;
Martin R,Farlow [21]
;
Jordan,Grafman [21]
;
Simon,Mead [22]
;
Lea T,Grinberg [21]
;
Salvatore,Spina [1]
;
Murray,Grossman [23]
;
David J,Irwin [1]
;
Edward B,Lee [24]
;
EunRan,Suh [25]
;
Julie,Snowden [26]
;
David,Mann [26]
;
Nilufer,Ertekin-Taner [27]
;
Ryan J,Uitti [28]
;
Zbigniew K,Wszolek [29]
;
Keith A,Josephs [30]
;
Joseph E,Parisi [5]
;
David S,Knopman [31]
;
Ronald C,Petersen [5]
;
John R,Hodges [32]
;
Olivier,Piguet [32]
;
Ethan G,Geier [33]
;
Jennifer S,Yokoyama [33]
;
Robert A,Rissman [34]
;
Ekaterina,Rogaeva [35]
;
Julia,Keith [1]
;
Lorne,Zinman [36]
;
Maria Carmela,Tartaglia [36]
;
Nigel J,Cairns [36]
;
Carlos,Cruchaga [37]
;
Bernardino,Ghetti [37]
;
Julia,Kofler [37]
;
Oscar L,Lopez [37]
;
Thomas G,Beach [38]
;
Thomas,Arzberger [39]
;
Jochen,Herms [5]
;
Lawrence S,Honig [5]
;
Jean Paul,Vonsattel [40]
;
Glenda M,Halliday [41]
;
John B,Kwok [42]
;
Charles L,White [43]
;
Marla,Gearing [44]
;
Jonathan,Glass [43]
;
Sara,Rollinson [42]
;
Stuart,Pickering-Brown [45]
;
Jonathan D,Rohrer [46]
;
John Q,Trojanowski [47]
;
Vivianna,Van Deerlin [48]
;
Eileen H,Bigio [49]
;
Claire,Troakes [24]
;
Safa,Al-Sarraj [50]
;
Yan,Asmann [51]
;
Bruce L,Miller [14]
;
Neill R,Graff-Radford [16]
;
Bradley F,Boeve [52]
;
William W,Seeley [14]
;
Ian R A,Mackenzie [16]
;
John C,van Swieten [53]
;
Dennis W,Dickson [54]
;
Joanna M,Biernacka [38]
;
Rosa,Rademakers [55]
作者单位:
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
[1]
Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL, USA.
[2]
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
[3]
Department of Neurology, Erasmus Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
[4]
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
[5]
Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC, V6T 2B5, Canada.
[6]
Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 2E2, Canada.
[7]
Division of Neurogeriatrics, Department NVS, Karolinska Institutet, Visionsgatan 4, J10:20, 171 64, Solna, Sweden.
[8]
Theme Aging, Unit for Hereditary Dementias, Karolinska University Hospital, Solna, Sweden.
[9]
German Center for Neurodegenerative Diseases (DZNE), 18147, Rostock, Germany.
[10]
Department of Neuropathology, University of Tübingen, 72076, Tübingen, Germany.
[11]
Hertie Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.
[12]
Department of Neurology, Rostock University Medical Center, 18147, Rostock, Germany.
[13]
German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Str 17, 81377, Munich, Germany.
[14]
Munich Cluster of Systems Neurology (SyNergy), Feodor-Lynen-Str 17, 81377, Munich, Germany.
[15]
Center for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Feodor-Lynen-Straße 23, 81377, Munich, Germany.
[16]
Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany.
[17]
Division of Neuropathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9073, USA.
[18]
London Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF, UK.
[19]
Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, SE5 9RS, UK.
[20]
Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, 60611, USA.
[21]
Department of Psychiatry and Behavioral Sciences and Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
[22]
Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center San Antonio, San Antonio, TX, 78229, USA.
[23]
Department of Neurology, University of Arizona Health Sciences Center, 1501 North Campbell Avenue, Tucson, AZ, 85724-5023, USA.
[24]
Banner Alzheimer's Institute, Phoenix, AZ, 85006, USA.
[25]
Department of Neurology, Mayo Clinic Arizona, Scottsdale, AZ, 85259, USA.
[26]
Departments of Psychiatry and Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, 630 West 168th St P&S Box 16, New York, NY, 10032, USA.
[27]
Indiana University School of Medicine, 355 West 16th Street, GH 4700 Neurology, Indianapolis, IN, 46202, USA.
[28]
Department of Physical Medicine and Rehabilitation, Neurology, Cognitive Neurology and Alzheimer's Center, Department of Psychiatry, Feinberg School of Medicine, Northwestern University, 355 E Erie Street, Chicago, IL, 60611-5146, USA.
[29]
MRC Prion Unit at University College London, Institute of Prion Diseases, London, UK.
[30]
Department of Pathology, Memory and Aging Center, University of California, San Francisco, CA, USA.
[31]
Penn Frontotemporal Degeneration Center, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
[32]
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
[33]
Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Salford, UK.
[34]
Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Salford Royal Hospital, Salford, UK.
[35]
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
[36]
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
[37]
Central Clinical School and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia.
[38]
School of Psychology and Brain and Mind Centre, The University of Sydney, Sydney, 2050, Australia.
[39]
Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.
[40]
Veterans Affairs San Diego Healthcare System, San Diego, CA, 92161, USA.
[41]
Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, 60 Leonard Av, 4th Floor - 4KD481, Toronto, ON, M5T 0S8, Canada.
[42]
Sunnybrook Health Sciences Centre, Toronto, ON, M4N 3M5, Canada.
[43]
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5S 1A1, Canada.
[44]
Krembil Neuroscience Center, Movement Disorder's Clinic, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON, M5T 2S8, Canada.
[45]
Department of Neurology, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA.
[46]
Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, 63108, USA.
[47]
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 635 Barnhill Drive, MS A138, Indianapolis, IN, 46202, USA.
[48]
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, 15213, USA.
[49]
Department of Neurology, University of Pittsburgh, Pittsburgh, PA, 15213, USA.
[50]
Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, 85351, USA.
[51]
Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University of Munich, Nussbaumstraße 7, 80336, Munich, Germany.
[52]
Department of Neurology, Taub Institute, and GH Sergievsky Center, Columbia University Irving Medical Center, 630 West 168th St (P&S Unit 16), New York, NY, 10032, USA.
[53]
Department of Pathology and Taub Institute, Columbia University Irving Medical Center, 630 West 168th St, New York, NY, 10032, USA.
[54]
UNSW Medicine and NeuRA, Randwick, 2031, Australia.
[55]
Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, 30322, USA.
[56]
Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[57]
Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
[58]
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, V5Z 1M9, Canada.
[59]
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA. Rademakers.rosa@mayo.edu.
[60]
主题词
老年人(Aged);DNA重复序列扩增(DNA Repeat Expansion);二肽基肽酶类和三肽基肽酶类(Dipeptidyl-Peptidases and Tripeptidyl-Peptidases);女(雌)性(Female);额叶(Frontal Lobe);额颞叶变性(Frontotemporal Lobar Degeneration);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);HLA-DQ抗原(HLA-DQ Antigens);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);中年人(Middle Aged);神经组织蛋白质类(Nerve Tissue Proteins);钾通道(Potassium Channels);蛋白质类(Proteins);RNA, 信使(RNA, Messenger);危险因素(Risk Factors);序列分析, RNA(Sequence Analysis, RNA);学会, 科学(Societies, Scientific);TDP-43蛋白质病(TDP-43 Proteinopathies)
DOI
10.1007/s00401-019-01962-9
PMID
30739198
发布时间
2024-03-27
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Acta neuropathologica
Acta neuropathologica
879-899页
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