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

Author

Listed:
  • 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
    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
    Northwestern University)

  • 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
    German Center for Neurodegenerative Diseases (DZNE)
    Philipps University)

  • 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
    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
    Mayo Clinic)

  • 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)

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).

Suggested Citation

  • 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 , 2015. "Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy," Nature Communications, Nature, vol. 6(1), pages 1-7, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8247
    DOI: 10.1038/ncomms8247
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    Cited by:

    1. Bingxin Zhao & Yujue Li & Zirui Fan & Zhenyi Wu & Juan Shu & Xiaochen Yang & Yilin Yang & Xifeng Wang & Bingxuan Li & Xiyao Wang & Carlos Copana & Yue Yang & Jinjie Lin & Yun Li & Jason L. Stein & Joa, 2024. "Eye-brain connections revealed by multimodal retinal and brain imaging genetics," Nature Communications, Nature, vol. 15(1), pages 1-19, December.
    2. Kurt Farrell & Jack Humphrey & Timothy Chang & Yi Zhao & Yuk Yee Leung & Pavel P. Kuksa & Vishakha Patil & Wan-Ping Lee & Amanda B. Kuzma & Otto Valladares & Laura B. Cantwell & Hui Wang & Ashvin Ravi, 2024. "Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes," Nature Communications, Nature, vol. 15(1), pages 1-17, December.

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