Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Naomi Kouri (), Owen A. Ross, Beth Dombroski, Curtis S. Younkin, Daniel J. Serie, Alexandra Soto-Ortolaza, Matthew Baker, Ni Cole A. Finch, Hyejin Yoon, Jungsu Kim, Shinsuke Fujioka, Catriona A. McLean, Bernardino Ghetti, Salvatore Spina, Laura B. Cantwell, Martin R. Farlow, Jordan Grafman, Edward D. Huey, Mi Ryung Han, Sherry Beecher, Evan T. Geller, Hans A. Kretzschmar, Sigrun Roeber, Marla Gearing, Jorge L. Juncos, Jean Paul G. Vonsattel, Vivianna M. Van Deerlin, Murray Grossman, Howard I. Hurtig, Rachel G. Gross, Steven E. Arnold, John Q. Trojanowski, Virginia M. Lee, Gregor K. Wenning, Charles L. White, Günter U. Höglinger, Ulrich Müller, Bernie Devlin, Lawrence I. Golbe, Julia Crook, Joseph E. Parisi, Bradley F. Boeve, Keith A. Josephs, Zbigniew K. Wszolek, Ryan J. Uitti, Neill R. Graff-Radford, Irene Litvan, Steven G. Younkin, Li-San Wang, Nilüfer Ertekin-Taner, Rosa Rademakers, Hakon Hakonarsen, Gerard D. Schellenberg and Dennis W. Dickson ()
Additional contact information
Naomi Kouri: Mayo Clinic College of Medicine
Owen A. Ross: Mayo Clinic College of Medicine
Beth Dombroski: Perelman School of Medicine, University of Pennsylvania
Curtis S. Younkin: Mayo Clinic College of Medicine
Daniel J. Serie: Mayo Clinic College of Medicine
Alexandra Soto-Ortolaza: Mayo Clinic College of Medicine
Matthew Baker: Mayo Clinic College of Medicine
Ni Cole A. Finch: Mayo Clinic College of Medicine
Hyejin Yoon: Mayo Clinic College of Medicine
Jungsu Kim: Mayo Clinic College of Medicine
Shinsuke Fujioka: Mayo Clinic College of Medicine
Catriona A. McLean: Victorian Brain Bank Network, Mental Health Research Institute
Bernardino Ghetti: Indiana University School of Medicine
Salvatore Spina: Indiana University School of Medicine
Laura B. Cantwell: Perelman School of Medicine, University of Pennsylvania
Martin R. Farlow: Indiana University School of Medicine
Jordan Grafman: Cognitive Neuroscience Laboratory, Brain Injury Research, Rehabilitation Institute of Chicago
Edward D. Huey: Columbia University
Mi Ryung Han: Perelman School of Medicine, University of Pennsylvania
Sherry Beecher: Perelman School of Medicine, University of Pennsylvania
Evan T. Geller: Perelman School of Medicine, University of Pennsylvania
Hans A. Kretzschmar: Mayo Clinic College of Medicine
Sigrun Roeber: Institut for Neuropathology and Prion Research and Brain Net Germany, Ludwig-Maximilians-Universität
Marla Gearing: Emory University School of Medicine
Jorge L. Juncos: Emory University
Jean Paul G. Vonsattel: Columbia University
Vivianna M. Van Deerlin: Perelman School of Medicine, University of Pennsylvania
Murray Grossman: University of Pennsylvania Health System
Howard I. Hurtig: University of Pennsylvania Health System
Rachel G. Gross: University of Pennsylvania Health System
Steven E. Arnold: Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine
John Q. Trojanowski: Perelman School of Medicine, University of Pennsylvania
Virginia M. Lee: Perelman School of Medicine, University of Pennsylvania
Gregor K. Wenning: Innsbruck Medical University
Charles L. White: University of Texas Southwestern Medical Center
Günter U. Höglinger: Technical University Munich
Ulrich Müller: Institut for Humangenetik, Justus-Liebig-Universität
Bernie Devlin: University of Pittsburgh
Lawrence I. Golbe: Rutgers Robert Wood Johnson Medical School
Julia Crook: Mayo Clinic College of Medicine
Joseph E. Parisi: Mayo Clinic
Bradley F. Boeve: Mayo Clinic
Keith A. Josephs: Mayo Clinic
Zbigniew K. Wszolek: Mayo Clinic
Ryan J. Uitti: Mayo Clinic
Neill R. Graff-Radford: Mayo Clinic
Irene Litvan: University of California, San Diego
Steven G. Younkin: Mayo Clinic College of Medicine
Li-San Wang: Perelman School of Medicine, University of Pennsylvania
Nilüfer Ertekin-Taner: Mayo Clinic College of Medicine
Rosa Rademakers: Mayo Clinic College of Medicine
Hakon Hakonarsen: Center for Applied Genomics, Children’s Hospital of Philadelphia
Gerard D. Schellenberg: Perelman School of Medicine, University of Pennsylvania
Dennis W. Dickson: Mayo Clinic College of Medicine

Nature Communications, 2015, vol. 6, issue 1, 1-7

Abstract: Abstract Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10−12), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10−8), and 2p22 at SOS1 (rs963731; P=1.76 × 10−7). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10−7) and MAPT H1c (17q21; rs242557; P=7.91 × 10−6). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (2)

Downloads: (external link)
https://www.nature.com/articles/ncomms8247 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8247

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms8247

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().