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Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Kouri, Naomi; Ross, Owen A; Dombroski, Beth; Younkin, Curtis S; Serie, Daniel J; Soto-Ortolaza, Alexandra; Baker, Matthew; Finch, Ni Cole A; Yoon, Hyejin; Kim, Jungsu; Fujioka, Shinsuke; McLean, Catriona A; Ghetti, Bernardino; Spina, Salvatore; Cantwell, Laura B; Farlow, Martin R; Grafman, Jordan; Huey, Edward D; Ryung Han, Mi; Beecher, Sherry; Geller, Evan T; Kretzschmar, Hans A; Roeber, Sigrun; Gearing, Marla; Juncos, Jorge L; Vonsattel, Jean Paul G; Van Deerlin, Vivianna M; Grossman, Murray; Hurtig, Howard I; Gross, Rachel G; Arnold, Steven E; Trojanowski, John Q; Lee, Virginia M; Wenning, Gregor K; White, Charles L; Höglinger, Günter U; Müller, Ulrich; Devlin, Bernie; Golbe, Lawrence I; Crook, Julia; Parisi, Joseph E; Boeve, Bradley F; Josephs, Keith A; Wszolek, Zbigniew K; Uitti, Ryan J; Graff-Radford, Neill R; Litvan, Irene; Younkin, Steven G; Wang, Li-San; Ertekin-Taner, Nilüfer.
Afiliação
  • Kouri N; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Ross OA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Dombroski B; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Younkin CS; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Serie DJ; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Soto-Ortolaza A; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Baker M; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Finch NCA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Yoon H; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Kim J; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Fujioka S; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • McLean CA; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Ghetti B; Victorian Brain Bank Network, Mental Health Research Institute, Parksville, Victoria 3052, Australia.
  • Spina S; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Cantwell LB; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Farlow MR; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Grafman J; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
  • Huey ED; Cognitive Neuroscience Laboratory, Brain Injury Research, Rehabilitation Institute of Chicago, Chicago, Illinois 60611, USA.
  • Ryung Han M; Department of Physical Medicine and Rehabilitation, Northwestern University, Illinois 60208, USA.
  • Beecher S; Departments of Psychiatry and Neurology, Columbia University, New York, New York10027, USA.
  • Geller ET; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Kretzschmar HA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Roeber S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Gearing M; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Juncos JL; Institut for Neuropathology and Prion Research and Brain Net Germany, Ludwig-Maximilians-Universität, Munich 80539, Germany.
  • Vonsattel JPG; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia 30307, USA.
  • Van Deerlin VM; Department of Neurology, Emory University, Atlanta, Georgia 30307, USA.
  • Grossman M; Department of Pathology and the Taub Institute for Research on Alzheimer's disease and the Aging Brain, Columbia University, New York, New York 10027, USA.
  • Hurtig HI; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Gross RG; Department of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
  • Arnold SE; Department of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
  • Trojanowski JQ; Department of Neurology, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA.
  • Lee VM; Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
  • Wenning GK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • White CL; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  • Höglinger GU; Department of Neurology, Innsbruck Medical University, Innsbruck 6020, Austria.
  • Müller U; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75235, USA.
  • Devlin B; Department of Neurology, Technical University Munich, 81377 Munich, Germany.
  • Golbe LI; Department of Translational Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), 81677 Munich, Germany.
  • Crook J; Department of Neurology, Philipps University, 35033 Marburg, Germany.
  • Parisi JE; Institut for Humangenetik, Justus-Liebig-Universität, Giessen 35390, Germany.
  • Boeve BF; Department of Human Genetics, University of Pittsburgh, Pittsburg, Pennsylvania 15260, USA.
  • Josephs KA; Department of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey 08901, USA.
  • Wszolek ZK; Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Uitti RJ; Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
  • Graff-Radford NR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
  • Litvan I; Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
  • Younkin SG; Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
  • Wang LS; Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
  • Ertekin-Taner N; Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
Nat Commun ; 6: 7247, 2015 Jun 16.
Article em En | MEDLINE | ID: mdl-26077951
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).
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Paralisia Supranuclear Progressiva / Cinesinas / Proteínas tau / Doenças Neurodegenerativas / Proteína SOS1 / RNA Longo não Codificante / Proteínas da Mielina Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Paralisia Supranuclear Progressiva / Cinesinas / Proteínas tau / Doenças Neurodegenerativas / Proteína SOS1 / RNA Longo não Codificante / Proteínas da Mielina Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article