Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
第一作者:
Cyril,Pottier
第一单位:
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. cpottier@wustl.edu.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. cpottier@wustl.edu.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. cpottier@wustl.edu.;Department of Neurology, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.;NeuroGenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.
作者:
Cyril,Pottier [1]
;
Fahri,Küçükali [2]
;
Matt,Baker [3]
;
Anthony,Batzler [4]
;
Gregory D,Jenkins [4]
;
Marka,van Blitterswijk [3]
;
Cristina T,Vicente [2]
;
Wouter,De Coster [2]
;
Sarah,Wynants [2]
;
Pieter,Van de Walle [2]
;
Owen A,Ross [3]
;
Melissa E,Murray [3]
;
Júlia,Faura [2]
;
Stephen J,Haggarty [5]
;
Jeroen Gj,van Rooij [6]
;
Merel O,Mol [6]
;
Ging-Yuek R,Hsiung [7]
;
Caroline,Graff [8]
;
Linn,Öijerstedt [8]
;
Manuela,Neumann [9]
;
Yan,Asmann [10]
;
Shannon K,McDonnell [4]
;
Saurabh,Baheti [4]
;
Keith A,Josephs [11]
;
Jennifer L,Whitwell [12]
;
Kevin F,Bieniek [13]
;
Leah,Forsberg [11]
;
Hilary,Heuer [14]
;
Argentina Lario,Lago [14]
;
Ethan G,Geier [14]
;
Jennifer S,Yokoyama [14]
;
Alexis P,Oddi [14]
;
Margaret,Flanagan [15]
;
Qinwen,Mao [16]
;
John R,Hodges [17]
;
John B,Kwok [18]
;
Kimiko,Domoto-Reilly [19]
;
Matthis,Synofzik [20]
;
Carlo,Wilke [20]
;
Chiadi,Onyike [21]
;
Bradford C,Dickerson [22]
;
Bret M,Evers [23]
;
Brittany N,Dugger [24]
;
David G,Munoz [25]
;
Julia,Keith [26]
;
Lorne,Zinman [27]
;
Ekaterina,Rogaeva [28]
;
EunRan,Suh [29]
;
Tamar,Gefen [30]
;
Changiz,Geula [30]
;
Sandra,Weintraub [30]
;
Janine,Diehl-Schmid [31]
;
Martin R,Farlow [32]
;
Dieter,Edbauer [33]
;
Bryan K,Woodruff [34]
;
Richard J,Caselli [34]
;
Laura L,Donker Kaat [35]
;
Edward D,Huey [36]
;
Eric M,Reiman [37]
;
Simon,Mead [38]
;
Andrew,King [39]
;
Sigrun,Roeber [40]
;
Alissa L,Nana [14]
;
Nilufer,Ertekin-Taner [41]
;
David S,Knopman [11]
;
Ronald C,Petersen [11]
;
Leonard,Petrucelli [3]
;
Ryan J,Uitti [42]
;
Zbigniew K,Wszolek [42]
;
Eliana Marisa,Ramos [43]
;
Lea T,Grinberg [14]
;
Maria Luisa Gorno,Tempini [14]
;
Howard J,Rosen [44]
;
Salvatore,Spina [14]
;
Olivier,Piguet [45]
;
Murray,Grossman [46]
;
John Q,Trojanowski [29]
;
C Dirk,Keene [47]
;
Lee-Way,Jin [48]
;
Johannes,Prudlo [49]
;
Daniel H,Geschwind [43]
;
Robert A,Rissman [50]
;
Carlos,Cruchaga [51]
;
Bernardino,Ghetti [52]
;
Glenda M,Halliday [53]
;
Thomas G,Beach [54]
;
Geidy E,Serrano [54]
;
Thomas,Arzberger [55]
;
Jochen,Herms [56]
;
Adam L,Boxer [14]
;
Lawrence S,Honig [57]
;
Jean P,Vonsattel [58]
;
Oscar L,Lopez [59]
;
Julia,Kofler [60]
;
Charles L,White [23]
;
Marla,Gearing [61]
;
Jonathan,Glass [61]
;
Jonathan D,Rohrer [62]
;
David J,Irwin [46]
;
Edward B,Lee [29]
;
Vivianna,Van Deerlin [29]
;
Rudolph,Castellani [63]
;
Marsel M,Mesulam [30]
;
Maria C,Tartaglia [28]
;
Elizabeth C,Finger [64]
;
Claire,Troakes [65]
;
Safa,Al-Sarraj [66]
;
Clifton L,Dalgard [67]
;
Bruce L,Miller [14]
;
Harro,Seelaar [6]
;
Neill R,Graff-Radford [42]
;
Bradley F,Boeve [11]
;
Ian Ra,Mackenzie [68]
;
John C,van Swieten [6]
;
William W,Seeley [14]
;
Kristel,Sleegers [2]
;
Dennis W,Dickson [3]
;
Joanna M,Biernacka [69]
;
Rosa,Rademakers [70]
作者单位:
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. cpottier@wustl.edu.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. cpottier@wustl.edu.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. cpottier@wustl.edu.;Department of Neurology, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.;NeuroGenomics and Informatics Center, Washington University School of Medicine, St Louis, MO, USA. cpottier@wustl.edu.
[1]
Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
[2]
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
[3]
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
[4]
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
[5]
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
[6]
Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.
[7]
Division of Neurogeriatrics, Karolinska Institutet, Solna, Sweden.;Unit for Hereditary Dementias, Karolinska University Hospital, Solna, Sweden.
[8]
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.;Department of Neuropathology, University of Tübingen, Tübingen, Germany.
[9]
Department of Health Sciences Research, Mayo Clinic, Jacksonville, FL, USA.
[10]
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
[11]
Department of Radiology, Mayo Clinic, Rochester, MN, USA.
[12]
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.;University of Texas Health Science Center San Antonio, San Antonio, TX, USA.
[13]
Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
[14]
University of Texas Health Science Center San Antonio, San Antonio, TX, USA.
[15]
Department of Pathology, University of Utah, Salt Lake City, UT, USA.
[16]
Central Clinical School and Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia.
[17]
University of Sydney, Sydney, NSW, Australia.;NeuRA, University of New South Wales, Randwick, NSW, Australia.
[18]
Department of Neurology, University of Washington, Seattle, WA, USA.
[19]
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.;Division Translational Genomics of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
[20]
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA.
[21]
Department of Neurology, Case Western Reserve University, Cleveland, OH, USA.
[22]
Division of Neuropathology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
[23]
Department of Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA, USA.
[24]
St. Michael's Hospital, Toronto, ON, Canada.;Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
[25]
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.;Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
[26]
Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
[27]
Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, ON, Canada.
[28]
Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[29]
Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Northwestern University, Chicago, IL, USA.
[30]
Department of Psychiatry and Psychotherapy, Technical University of Munich, Munich, Germany.;kbo-Inn-Salzach-Klinikum, Clinical Center for Psychiatry, Psychotherapy, Psychosomatic Medicine, Geriatrics and Neurology, Wasserburg/Inn, Germany.
[31]
Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.
[32]
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
[33]
Department of Neurology, Mayo Clinic, Scottsdale, AZ, USA.
[34]
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
[35]
Department of Psychiatry and Human Behavior, Brown Alpert Medical School, Brown University, Providence, RI, USA.
[36]
Banner Alzheimer's Institute, Phoenix, AZ, USA.
[37]
MRC Prion Unit at University College London, Institute of Prion Diseases, London, UK.
[38]
Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.;Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.
[39]
Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.
[40]
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.;Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
[41]
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
[42]
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[43]
Department of Pathology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
[44]
School of Psychology and Brain and Mind Centre, University of Sydney, Sydney, SWA, Australia.
[45]
Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[46]
University of Washington BioRepository and Integrated Neuropathology (BRaIN) lab, Harborview Medical Center, Seattle, WA, USA.
[47]
M.I.N.D. Institute Laboratory, University of California, Davis Medical Center, Sacramento, CA, USA.
[48]
German Center for Neurodegenerative Diseases (DZNE), Rostock, Germany.;Department of Neurology, Rostock University Medical Center, Rostock, Germany.
[49]
Alzheimer's Therapeutic Research Institute, Keck School of Medicine of the University of Southern California, San Diego, CA, USA.
[50]
Department of Psychiatry, Knight Alzheimer Disease Research Center, Washington University School of Medicine, Saint Louis, MO, USA.
[51]
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
[52]
University of Sydney, Sydney, NSW, Australia.
[53]
Civin Laboratory for Neuropathology, Banner Sun Health Research Institute, Sun City, AZ, USA.
[54]
Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.;Department of Psychiatry and Psychotherapy, University Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany.
[55]
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.;Centre for Neuropathology and Prion Research, Ludwig-Maximilians-University of Munich, Munich, Germany.
[56]
Department of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA.
[57]
Department of Pathology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY, USA.
[58]
Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.
[59]
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
[60]
Department of Pathology and Laboratory Medicine and Department of Neurology, Emory University, Atlanta, GA, USA.
[61]
Department of Neurodegenerative Disease, Dementia Research Centre, University College London, Queen Square Institute of Neurology, London, UK.
[62]
Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
[63]
Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.
[64]
Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
[65]
Department of Basic and Clinical Neuroscience, London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.;King's College Hospital NHS Foundation Trust, London, UK.
[66]
Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
[67]
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
[68]
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.;Department of Psychiatry & Psychology, Mayo Clinic, Rochester, MN, USA.
[69]
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. rosa.rademakers@uantwerpen.vib.be.;Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. rosa.rademakers@uantwerpen.vib.be.;VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. rosa.rademakers@uantwerpen.vib.be.
[70]
医学主题词
人类(Humans);全基因组关联研究(Genome-Wide Association Study);危险因素(Risk Factors);疾病遗传易感性(Genetic Predisposition to Disease);男(雄)性(Male);女(雌)性(Female);额颞叶变性(Frontotemporal Lobar Degeneration);DNA结合蛋白质类(DNA-Binding Proteins);老年人(Aged);中年人(Middle Aged);脑(Brain);队列研究(Cohort Studies);神经组织蛋白质类(Nerve Tissue Proteins)
DOI
10.1038/s41467-025-59216-0
PMID
40280976
发布时间
2026-03-06
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Nature communications
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