Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

BH. Laabs, K. Lohmann, EJ. Vollstedt, T. Reinberger, LM. Nuxoll, G. Kilic-Berkmen, JS. Perlmutter, S. Loens, C. Cruchaga, A. Franke, V. Dobricic, F. Hinrichs, A. Grözinger, E. Altenmüller, S. Bellows, S. Boesch, SB. Bressman, KR. Duque, AJ....

. 2024 ; 39 (11) : 2110-2116. [pub] 20240917

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, multicentrická studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc25003644

Grantová podpora
NS065701 NIH HHS - United States
NS095445 NIH HHS - United States
NS116025 NIH HHS - United States
P01NS087997 NIH HHS - United States
R01DC011805 NIH HHS - United States
R01DC012545 NIH HHS - United States
R01NS026656 NIH HHS - United States
R01NS088160 NIH HHS - United States
TR001456 NIH HHS - United States
EXC2167 Deutsche Forschungsgemeinschaft
FOR2488 Deutsche Forschungsgemeinschaft
LX22NPO5107 National Institute for Neurological Research, Czech Republic
01GM1514A Bundesministerium für Bildung und Forschung
01GM2302 Bundesministerium für Bildung und Forschung
Aligning Science Across Parkinson's
European Union
European Joint Programme on Rare Diseases
Technical University of Munich-Institute for Advanced Study
NS065701 NIH HHS - United States
NS095445 NIH HHS - United States
NS116025 NIH HHS - United States
P01NS087997 NIH HHS - United States
R01DC011805 NIH HHS - United States
R01DC012545 NIH HHS - United States
R01NS026656 NIH HHS - United States
R01NS088160 NIH HHS - United States
TR001456 NIH HHS - United States

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.

Clinic for Neurology Christian Albrechts University Kiel Germany

Clinic for Neurology Hannover Medical School Hannover Germany

Department of Epidemiology Emory University Rollins School of Public Health Emory University Atlanta Georgia USA

Department of Neurological Sciences RUSH University Chicago Illinois USA

Department of Neurology and Experimental Neurology Charité University Medicine Berlin Germany

Department of Neurology Beth Israel Deaconess Medical Center Harvard Medical School Boston Massachusetts USA

Department of Neurology Charles University Prague 1st Faculty of Medicine and General University Hospital Prague Prague Czech Republic

Department of Neurology Emory University Atlanta Georgia USA

Department of Neurology Icahn School of Medicine at Mount Sinai New York New York USA

Department of Neurology Johns Hopkins Medicine Baltimore Maryland USA

Department of Neurology Kassel School of Medicine Klinikum Kassel Kassel Germany

Department of Neurology Klinikum rechts der Isar Technical University of Munich School of Medicine Munich Germany

Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston Massachusetts USA

Department of Neurology Medical University of Innsbruck Innsbruck Austria

Department of Neurology Mount Sinai Beth Israel Medical Center New York New York USA

Department of Neurology Radiology and Neuroscience Washington University School of Medicine St Louis Missouri USA

Department of Neurology School of Medicine University of Colorado Aurora Colorado USA

Department of Neurology University Hospital Würzburg Würzburg Germany

Department of Neurology University Medical Center Hamburg Eppendorf Hamburg Germany

Department of Neurology University Medical Centre Rostock Rostock Germany

Department of Neurology University of Florida Gainesville Florida USA

Department of Neurology University of Lübeck Lübeck Germany

Department of Neurology University of New Mexico Albuquerque New Mexico USA

Department of Neurology University of Tübingen Tübingen Germany

Department of Neurology Washington University School of Medicine St Louis Missouri USA

Department of Otolaryngology Head and Neck Surgery Massachusetts Eye and Ear and Harvard Medical School Boston Massachusetts USA

Department of Psychiatry and Psychotherapy University of Lübeck Lübeck Germany

Department of Psychiatry Washington University School of Medicine St Louis Missouri USA

Department of Psychology University of Memphis Memphis Tennessee USA

Essener Zentrum für Seltene Erkrankungen University Hospital Essen Essen Germany

Hertie Institute for Clinical Brain Research and DZNE University of Tübingen Tübingen Germany

Institute for Cardiogenetics University of Lübeck Lübeck Germany

Institute of Clinical Molecular Biology Kiel University Kiel Germany

Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany

Institute of Human Genetics University Hospital Essen University Duisburg Essen Essen Germany

Institute of Medical Biometry and Statistics University of Lübeck Lübeck Germany

Institute of Music Physiology and Musician's Medicine Hanover University of Music Drama and Media Hanover Germany

Institute of Neurogenetics University of Lübeck Lübeck Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

Institute of Systems Motor Science CBBM University of Lübeck Lübeck Germany

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

Lübeck Interdisciplinary Platform for Genome Analysis University of Lübeck Lübeck Germany

Munich Cluster for Systems Neurology SyNergy Munich Germany

Parkinson's Disease Center and Movement Disorder Clinic Baylor College of Medicine Houston Texas USA

University of Maryland School of Medicine Baltimore Maryland USA

Veracity Neuroscience LLC Memphis Tennessee USA

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc25003644
003      
CZ-PrNML
005      
20250206104559.0
007      
ta
008      
250121s2024 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1002/mds.29968 $2 doi
035    __
$a (PubMed)39287592
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Laabs, Björn-Hergen $u Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000292655738
245    10
$a Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies / $c BH. Laabs, K. Lohmann, EJ. Vollstedt, T. Reinberger, LM. Nuxoll, G. Kilic-Berkmen, JS. Perlmutter, S. Loens, C. Cruchaga, A. Franke, V. Dobricic, F. Hinrichs, A. Grözinger, E. Altenmüller, S. Bellows, S. Boesch, SB. Bressman, KR. Duque, AJ. Espay, A. Ferbert, JS. Feuerstein, S. Frank, T. Gasser, B. Haslinger, R. Jech, F. Kaiser, C. Kamm, K. Kollewe, AA. Kühn, MS. LeDoux, E. Lohmann, A. Mahajan, A. Münchau, T. Multhaupt-Buell, A. Pantelyat, SE. Pirio Richardson, D. Raymond, SG. Reich, R. Saunders Pullman, B. Schormair, N. Sharma, AH. Sichani, K. Simonyan, J. Volkmann, A. Wagle Shukla, J. Winkelmann, LJ. Wright, M. Zech, KE. Zeuner, S. Zittel, M. Kasten, YV. Sun, T. Bäumer, N. Brüggemann, LJ. Ozelius, HA. Jinnah, C. Klein, IR. König
520    9_
$a 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.
650    _2
$a lidé $7 D006801
650    12
$a celogenomová asociační studie $7 D055106
650    12
$a jednonukleotidový polymorfismus $x genetika $7 D020641
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a rizikové faktory $7 D012307
650    12
$a genetická predispozice k nemoci $x genetika $7 D020022
650    12
$a dystonie $x genetika $7 D004421
650    _2
$a dospělí $7 D000328
650    _2
$a lidé středního věku $7 D008875
650    _2
$a dystonické poruchy $x genetika $7 D020821
655    _2
$a časopisecké články $7 D016428
655    _2
$a multicentrická studie $7 D016448
700    1_
$a Lohmann, Katja $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a Vollstedt, Eva-Juliane $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a Reinberger, Tobias $u Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a Nuxoll, Lisa-Marie $u Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000301676638
700    1_
$a Kilic-Berkmen, Gamze $u Department of Neurology, Emory University, Atlanta, Georgia, USA $1 https://orcid.org/0000000291565706
700    1_
$a Perlmutter, Joel S $u Department of Neurology, Radiology and Neuroscience, Washington University School of Medicine, St. Louis, Missouri, USA
700    1_
$a Loens, Sebastian $u Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000330675239
700    1_
$a Cruchaga, Carlos $u Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA $1 https://orcid.org/0000000202762899
700    1_
$a Franke, Andre $u Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany
700    1_
$a Dobricic, Valerija $u Lübeck Interdisciplinary Platform for Genome Analysis, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000185591097
700    1_
$a Hinrichs, Frauke $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a Grözinger, Anne $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a Altenmüller, Eckart $u Institute of Music Physiology and Musician's Medicine, Hanover University of Music, Drama and Media, Hanover, Germany
700    1_
$a Bellows, Steven $u Parkinson's Disease Center and Movement Disorder Clinic, Baylor College of Medicine, Houston, Texas, USA
700    1_
$a Boesch, Sylvia $u Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
700    1_
$a Bressman, Susan B $u Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA $u Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA
700    1_
$a Duque, Kevin R $u 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
700    1_
$a Espay, Alberto J $u 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 $1 https://orcid.org/000000023389136X
700    1_
$a Ferbert, Andreas $u Department of Neurology, Kassel School of Medicine, Klinikum Kassel, Kassel, Germany
700    1_
$a Feuerstein, Jeanne S $u Department of Neurology, School of Medicine, University of Colorado, Aurora, Colorado, USA $1 https://orcid.org/0000000277013120
700    1_
$a Frank, Samuel $u Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA $1 https://orcid.org/000000021866162X
700    1_
$a Gasser, Thomas $u Department of Neurology, University of Tübingen, Tübingen, Germany $u Hertie Institute for Clinical Brain Research and DZNE, University of Tübingen, Tübingen, Germany
700    1_
$a Haslinger, Bernhard $u Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany $1 https://orcid.org/0000000255131839
700    1_
$a Jech, Robert $u Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic $1 https://orcid.org/0000000297328947 $7 xx0082225
700    1_
$a Kaiser, Frank $u Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany $u Essener Zentrum für Seltene Erkrankungen, University Hospital Essen, Essen, Germany
700    1_
$a Kamm, Christoph $u Department of Neurology, University Medical Centre Rostock, Rostock, Germany $1 https://orcid.org/0000000276182336
700    1_
$a Kollewe, Katja $u Clinic for Neurology, Hannover Medical School, Hannover, Germany
700    1_
$a Kühn, Andrea A $u Department of Neurology and Experimental Neurology, Charité-University Medicine, Berlin, Germany
700    1_
$a LeDoux, Mark S $u Veracity Neuroscience LLC, Memphis, Tennessee, USA $u Department of Psychology, University of Memphis, Memphis, Tennessee, USA
700    1_
$a Lohmann, Ebba $u Department of Neurology, University of Tübingen, Tübingen, Germany $u Hertie Institute for Clinical Brain Research and DZNE, University of Tübingen, Tübingen, Germany
700    1_
$a Mahajan, Abhimanyu $u Department of Neurological Sciences, RUSH University, Chicago, Illinois, USA $1 https://orcid.org/0000000188076672
700    1_
$a Münchau, Alexander $u Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000232192284
700    1_
$a Multhaupt-Buell, Trisha $u Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
700    1_
$a Pantelyat, Alexander $u Department of Neurology, Johns Hopkins Medicine, Baltimore, Maryland, USA $1 https://orcid.org/0000000264277485
700    1_
$a Pirio Richardson, Sarah E $u Department of Neurology, University of New Mexico, Albuquerque, New Mexico, USA
700    1_
$a Raymond, Deborah $u Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA
700    1_
$a Reich, Stephen G $u University of Maryland School of Medicine, Baltimore, Maryland, USA
700    1_
$a Saunders Pullman, Rachel $u Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA $u Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA $1 https://orcid.org/0000000181328806
700    1_
$a Schormair, Barbara $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany $u Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany $1 https://orcid.org/0000000309425243
700    1_
$a Sharma, Nutan $u Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
700    1_
$a Sichani, Azadeh Hamzehei $u Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA $u Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA
700    1_
$a Simonyan, Kristina $u Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA $u Department of Neurological Sciences, RUSH University, Chicago, Illinois, USA $u Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA $u Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye and Ear and Harvard Medical School, Boston, Massachusetts, USA $1 https://orcid.org/0000000174440437
700    1_
$a Volkmann, Jens $u Department of Neurology, University Hospital Würzburg, Würzburg, Germany
700    1_
$a Wagle Shukla, Aparna $u Department of Neurology, University of Florida, Gainesville, Florida, USA
700    1_
$a Winkelmann, Juliane $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany $u Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany $u Munich Cluster for Systems Neurology, SyNergy, Munich, Germany
700    1_
$a Wright, Laura J $u Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA
700    1_
$a Zech, Michael $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany $u Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany $1 https://orcid.org/0000000181129153
700    1_
$a Zeuner, Kirsten E $u Clinic for Neurology, Christian-Albrechts-University, Kiel, Germany
700    1_
$a Zittel, Simone $u Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany $1 https://orcid.org/0000000237676376
700    1_
$a Kasten, Meike $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany $u Department of Psychiatry and Psychotherapy, University of Lübeck, Lübeck, Germany
700    1_
$a Sun, Yan V $u Department of Epidemiology, Emory University Rollins School of Public Health, Emory University, Atlanta, Georgia, USA
700    1_
$a Bäumer, Tobias $u Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany
700    1_
$a Brüggemann, Norbert $u Department of Neurology, University of Lübeck, Lübeck, Germany $1 https://orcid.org/0000000159696899
700    1_
$a Ozelius, Laurie J $u Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
700    1_
$a Jinnah, Hyder A $u Department of Neurology, Emory University, Atlanta, Georgia, USA
700    1_
$a Klein, Christine $u Institute of Neurogenetics, University of Lübeck, Lübeck, Germany
700    1_
$a König, Inke R $u Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany
773    0_
$w MED00003420 $t Movement disorders $x 1531-8257 $g Roč. 39, č. 11 (2024), s. 2110-2116
856    41
$u https://pubmed.ncbi.nlm.nih.gov/39287592 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y - $z 0
990    __
$a 20250121 $b ABA008
991    __
$a 20250206104554 $b ABA008
999    __
$a ok $b bmc $g 2263414 $s 1239651
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2024 $b 39 $c 11 $d 2110-2116 $e 20240917 $i 1531-8257 $m Movement disorders $n Mov Disord $x MED00003420
GRA    __
$a NS065701 $p NIH HHS $2 United States
GRA    __
$a NS095445 $p NIH HHS $2 United States
GRA    __
$a NS116025 $p NIH HHS $2 United States
GRA    __
$a P01NS087997 $p NIH HHS $2 United States
GRA    __
$a R01DC011805 $p NIH HHS $2 United States
GRA    __
$a R01DC012545 $p NIH HHS $2 United States
GRA    __
$a R01NS026656 $p NIH HHS $2 United States
GRA    __
$a R01NS088160 $p NIH HHS $2 United States
GRA    __
$a TR001456 $p NIH HHS $2 United States
GRA    __
$a EXC2167 $p Deutsche Forschungsgemeinschaft
GRA    __
$a FOR2488 $p Deutsche Forschungsgemeinschaft
GRA    __
$a LX22NPO5107 $p National Institute for Neurological Research, Czech Republic
GRA    __
$a 01GM1514A $p Bundesministerium für Bildung und Forschung
GRA    __
$a 01GM2302 $p Bundesministerium für Bildung und Forschung
GRA    __
$p Aligning Science Across Parkinson's
GRA    __
$p European Union
GRA    __
$p European Joint Programme on Rare Diseases
GRA    __
$p Technical University of Munich-Institute for Advanced Study
GRA    __
$a NS065701 $p NIH HHS $2 United States
GRA    __
$a NS095445 $p NIH HHS $2 United States
GRA    __
$a NS116025 $p NIH HHS $2 United States
GRA    __
$a P01NS087997 $p NIH HHS $2 United States
GRA    __
$a R01DC011805 $p NIH HHS $2 United States
GRA    __
$a R01DC012545 $p NIH HHS $2 United States
GRA    __
$a R01NS026656 $p NIH HHS $2 United States
GRA    __
$a R01NS088160 $p NIH HHS $2 United States
GRA    __
$a TR001456 $p NIH HHS $2 United States
LZP    __
$a Pubmed-20250121

Najít záznam

Citační ukazatele

Možnosti archivace