Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Abstract Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP W...

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Main Authors: Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina T. Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa E. Murray, Júlia Faura, Stephen J. Haggarty, Jeroen GJ. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Öijerstedt, Manuela Neumann, Yan Asmann, Shannon K. McDonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoto-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, EunRan Suh, Tamar Gefen, Changiz Geula, Sandra Weintraub, Janine Diehl-Schmid, Martin R. Farlow, Dieter Edbauer, Bryan K. Woodruff, Richard J. Caselli, Laura L. Donker Kaat, Edward D. Huey, Eric M. Reiman, Simon Mead, Andrew King, Sigrun Roeber, Alissa L. Nana, Nilufer Ertekin-Taner, David S. Knopman, Ronald C. Petersen, Leonard Petrucelli, Ryan J. Uitti, Zbigniew K. Wszolek, Eliana Marisa Ramos, Lea T. Grinberg, Maria Luisa Gorno Tempini, Howard J. Rosen, Salvatore Spina, Olivier Piguet, Murray Grossman, John Q. Trojanowski, C. Dirk Keene, Lee-Way Jin, Johannes Prudlo, Daniel H. Geschwind, Robert A. Rissman, Carlos Cruchaga, Bernardino Ghetti, Glenda M. Halliday, Thomas G. Beach, Geidy E. Serrano, Thomas Arzberger, Jochen Herms, Adam L. Boxer, Lawrence S. Honig, Jean P. Vonsattel, Oscar L. Lopez, Julia Kofler, Charles L. White, Marla Gearing, Jonathan Glass, Jonathan D. Rohrer, David J. Irwin, Edward B. Lee, Vivianna Van Deerlin, Rudolph Castellani, Marsel M. Mesulam, Maria C. Tartaglia, Elizabeth C. Finger, Claire Troakes, Safa Al-Sarraj, Clifton L. Dalgard, Bruce L. Miller, Harro Seelaar, Neill R. Graff-Radford, Bradley F. Boeve, Ian RA. Mackenzie, John C. van Swieten, William W. Seeley, Kristel Sleegers, Dennis W. Dickson, Joanna M. Biernacka, Rosa Rademakers
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59216-0
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