Reference : Genome sequencing analysis identifies new loci associated with Lewy body dementia and...
E-prints/Working papers : Already available on another site
Life sciences : Biochemistry, biophysics & molecular biology
Systems Biomedicine
http://hdl.handle.net/10993/44713
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture
English
Chia, Ruth [1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA]
Sabir, Marya S. [> >]
Bandres-Ciga, Sara [> >]
Saez-Atienzar, Sara [> >]
Reynolds, Regina H. [> >]
Gustavsson, Emil [> >]
Walton, Ronald L. [> >]
Ahmed, Sarah [> >]
Viollet, Coralie [> >]
Ding, Jinhui [> >]
Makarious, Mary B. [> >]
Diez-Fairen, Monica [> >]
Portley, Makayla K. [> >]
Shah, Zalak [> >]
Abramzon, Yevgeniya [> >]
Hernandez, Dena G. [> >]
Blauwendraat, Cornelis [> >]
Stone, David J. [> >]
Eicher, John [> >]
Parkkinen, Laura [> >]
Ansorge, Olaf [> >]
Clark, Lorraine [> >]
Honig, Lawrence S. [> >]
Marder, Karen [> >]
Lemstra, Afina [> >]
George-Hyslop, Peter St [> >]
Londos, Elisabet [> >]
Morgan, Kevin [> >]
Lashley, Tammaryn [> >]
Warner, Thomas T. [> >]
Jaunmuktane, Zane [> >]
Galasko, Douglas [> >]
Santana, Isabel [> >]
Tienari, Pentti J. [> >]
Myllykangas, Liisa [> >]
Oinas, Minna [> >]
Cairns, Nigel J. [> >]
Morris, John C. [> >]
Halliday, Glenda M. [> >]
Van Deerlin, Vivianna M. [> >]
Trojanowski, John Q. [> >]
Grassano, Maurizio [> >]
Calvo, Andrea [> >]
Mora, Gabriele [> >]
Canosa, Antonio [> >]
Floris, Gianluca [> >]
Bohannan, Ryan C. [> >]
Brett, Francesca [> >]
Gan-Or, Ziv [> >]
Geiger, Joshua T. [> >]
Moore, Anni [> >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core]
Krüger, Rejko mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
Goldstein, David [> >]
Lopez, Grisel [> >]
Tayebi, Nahid [> >]
Sidransky, Ellen [> >]
??? [> >]
Palma, Jose-Alberto [> >]
Kaufmann, Horacio [> >]
Shakkottai, Vikram [> >]
Perkins, Matthew [> >]
Newell, Kathy L. [> >]
Gasser, Thomas [> >]
Schulte, Claudia [> >]
Landi, Francesco [> >]
Salvi, Erika [> >]
Cusi, Daniele [> >]
Masliah, Eliezer [> >]
Kim, Ronald C. [> >]
Caraway, Chad A. [> >]
Monuki, Ed [> >]
Brunetti, Maura [> >]
Dawson, Ted M. [> >]
Rosenthal, Liana S. [> >]
Albert, Marilyn S. [> >]
Pletnikova, Olga [> >]
Troncoso, Juan C. [> >]
Flanagan, Margaret E. [> >]
Mao, Qinwen [> >]
Bigio, Eileen H. [> >]
Rodríguez-Rodríguez, Eloy [> >]
Infante, Jon [> >]
Lage, Carmen [> >]
González-Aramburu, Isabel [> >]
Sanchez-Juan, Pascual [> >]
Ghetti, Bernardino [> >]
Keith, Julia [> >]
Black, Sandra E. [> >]
Masellis, Mario [> >]
Rogaeva, Ekaterina [> >]
Duyckaerts, Charles [> >]
Brice, Alexis [> >]
Lesage, Suzanne [> >]
Xiromerisiou, Georgia [> >]
Barrett, Matthew J. [> >]
Tilley, Bension S. [> >]
Gentleman, Steve [> >]
Logroscino, Giancarlo [> >]
Serrano, Geidy E. [> >]
Beach, Thomas G. [> >]
McKeith, Ian G. [> >]
Thomas, Alan J. [> >]
Attems, Johannes [> >]
Morris, Christopher M. [> >]
Palmer, Laura [> >]
Love, Seth [> >]
Troakes, Claire [> >]
Al-Sarraj, Safa [> >]
Hodges, Angela K. [> >]
Aarsland, Dag [> >]
Klein, Gregory [> >]
Kaiser, Scott M. [> >]
Woltjer, Randy [> >]
Pastor, Pau [> >]
Bekris, Lynn M. [> >]
Leverenz, James [> >]
Besser, Lilah M. [> >]
Kuzma, Amanda [> >]
Renton, Alan E. [> >]
Goate, Alison [> >]
Bennett, David A. [> >]
Scherzer, Clemens R. [> >]
Morris, Huw R. [> >]
Ferrari, Raffaele [> >]
Albani, Diego [> >]
Brown, Stuart Pickering [> >]
Faber, Kelley [> >]
Kukull, Walter [> >]
Morenas-Rodriguez, Estrella [> >]
Lleó, Alberto [> >]
Fortea, Juan [> >]
Alcolea, Daniel [> >]
Clarimon, Jordi [> >]
Nalls, Michael A. [> >]
Ferrucci, Luigi [> >]
Resnick, Susan M. [> >]
Tanaka, Toshiko [> >]
Foroud, Tatiana M. [> >]
Graff-Radford, Neill R. [> >]
Wszolek, Zbigniew K. [> >]
Ferman, Tanis [> >]
Boeve, Bradley F. [> >]
Hardy, John A. [> >]
Topol, Eric [> >]
Torkamani, Ali [> >]
Singleton, Andrew B. [> >]
Ryten, Mina [> >]
Dickson, Dennis [> >]
Chiò, Adriano [> >]
Ross, Owen A. [> >]
Gibbs, J. Raphael [> >]
Dalgard, Clifton L. [> >]
Traynor, Bryan J. [> >]
Scholz, Sonja W. [> >]
6-Jul-2020
Cold Spring Harbor Laboratory
No
[en] Lewy body dementia ; whole-genome sequencing ; GBA
[en] The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.Competing Interest StatementThomas G. Beach is a consultant for Prothena, Vivid Genomics and Avid Radiopharmaceuticals. He is a scientific advisory board member for Vivid Genomics. John A. Hardy, Huw R. Morris, Stuart Pickering-Brown, Andrew B. Singleton, and Bryan J. Traynor hold US, EU and Canadian patents on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72. Michael A. Nalls is supported by a consulting contract between Data Tecnica International and the National Institute on Aging, NIH, Bethesda, MD, USA; as a possible conflict of interest Dr. Nalls also consults for Neuron23 Inc., Lysosomal Therapeutics Inc., Illumina Inc., the Michael J. Fox Foundation and Vivid Genomics among others. Jose A. Palma is an editorial board member of Movement Disorders, Parkinsonism & Related Disorders, BMC Neurology, and Clinical Autonomic Research. Bradley F. Boeve, James Leverenz, and Sonja W. Scholz serve on the Scientific Advisory Council of the Lewy Body Dementia Association. Sonja W. Scholz is an editorial board member for the Journal of Parkinson's Disease. Bryan J. Traynor is an editorial board member for JAMA Neurology; Journal of Neurology, Neurosurgery, and Psychiatry; Brain; and Neurobiology of Aging. Zbigniew K. Wszolek serves as a principal investigator or co-principal investigator on Abbvie, Inc. (M15-562 and M15-563), Biogen, Inc. (228PD201) grant, and Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301). Zbigniew K. Wszolek serves as the principal investigator of the Mayo Clinic American Parkinson Disease Association (APDA) Information and Referral Center, and as co-principal investigator of the Mayo Clinic APDA Center for Advanced Research. All other authors report no competing interests.
Researchers ; Professionals ; Students
http://hdl.handle.net/10993/44713
10.1101/2020.07.06.185066
https://www.biorxiv.org/content/biorxiv/early/2020/07/06/2020.07.06.185066.full.pdf
https://www.biorxiv.org/content/10.1101/2020.07.06.185066v1

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