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Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Laabs, Björn-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B; Duque, Kevin R; Espay, Alberto J; Ferbert, Andreas; Feuerstein, Jeanne S; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kühn, Andrea A; LeDoux, Mark S; Lohmann, Ebba; Mahajan, Abhimanyu; Münchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E; Raymond, Deborah; Reich, Stephen G; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J; Zech, Michael; Zeuner, Kirsten E; Zittel, Simone.
Afiliación
  • Laabs BH; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
  • Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Vollstedt EJ; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Reinberger T; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
  • Nuxoll LM; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
  • Kilic-Berkmen G; Department of Neurology, Emory University, Atlanta, Georgia, USA.
  • Perlmutter JS; Department of Neurology, Radiology and Neuroscience, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Loens S; Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.
  • Cruchaga C; Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Franke A; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
  • Dobricic V; Lübeck Interdisciplinary Platform for Genome Analysis, University of Lübeck, Lübeck, Germany.
  • Hinrichs F; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Grözinger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Altenmüller E; Institute of Music Physiology and Musician's Medicine, Hanover University of Music, Drama and Media, Hanover, Germany.
  • Bellows S; Parkinson's Disease Center and Movement Disorder Clinic, Baylor College of Medicine, Houston, Texas, USA.
  • Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Bressman SB; Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
  • Duque KR; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Espay AJ; James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders Neurology and Rehabilitation Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
  • Ferbert A; James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders Neurology and Rehabilitation Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
  • Feuerstein JS; Department of Neurology, Kassel School of Medicine, Klinikum Kassel, Kassel, Germany.
  • Frank S; Department of Neurology, School of Medicine, University of Colorado, Aurora, Colorado, USA.
  • Gasser T; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
  • Haslinger B; Department of Neurology, University of Tübingen, Tübingen, Germany.
  • Jech R; Hertie Institute for Clinical Brain Research and DZNE, University of Tübingen, Tübingen, Germany.
  • Kaiser F; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
  • Kamm C; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Kollewe K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Kühn AA; Essener Zentrum für Seltene Erkrankungen, University Hospital Essen, Essen, Germany.
  • LeDoux MS; Department of Neurology, University Medical Centre Rostock, Rostock, Germany.
  • Lohmann E; Clinic for Neurology, Hannover Medical School, Hannover, Germany.
  • Mahajan A; Department of Neurology and Experimental Neurology, Charité-University Medicine, Berlin, Germany.
  • Münchau A; Veracity Neuroscience LLC, Memphis, Tennessee, USA.
  • Multhaupt-Buell T; Department of Psychology, University of Memphis, Memphis, Tennessee, USA.
  • Pantelyat A; Department of Neurology, University of Tübingen, Tübingen, Germany.
  • Pirio Richardson SE; Hertie Institute for Clinical Brain Research and DZNE, University of Tübingen, Tübingen, Germany.
  • Raymond D; Department of Neurological Sciences, RUSH University, Chicago, Illinois, USA.
  • Reich SG; Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.
  • Saunders Pullman R; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Schormair B; Department of Neurology, Johns Hopkins Medicine, Baltimore, Maryland, USA.
  • Sharma N; Department of Neurology, University of New Mexico, Albuquerque, New Mexico, USA.
  • Sichani AH; Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
  • Simonyan K; University of Maryland School of Medicine, Baltimore, Maryland, USA.
  • Volkmann J; Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
  • Wagle Shukla A; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Wright LJ; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Zech M; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Zeuner KE; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Zittel S; Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA.
Mov Disord ; 2024 Sep 17.
Article en En | MEDLINE | ID: mdl-39287592
ABSTRACT

BACKGROUND:

Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.

OBJECTIVE:

The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia.

METHODS:

Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation.

RESULTS:

This GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small.

CONCLUSIONS:

Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mov Disord Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Alemania