Evidence map›Paper›PMID 34320236›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2021

A Multi-center Genome-wide Association Study of Cervical Dystonia.

Yan V Sun, Chengchen Li, Qin Hui, Yunfeng Huang, Richard Barbano, Ramon Rodriguez, Irene A Malaty, Stephen Reich, Kimberly Bambarger, Katie Holmes and 45 more

Open access · greenAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
  2. Article
  3. Isolated Cervical Dystonia: Diagnosis and Classification.Movement disorders : official journal of the Movement Disorder Society · 2023
    Review
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

55 authors at 20 institutions in 5 countries.

Yan V SunDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.ORCID 0000-0002-2838-1824
Chengchen LiDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
Qin HuiDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.ORCID 0000-0002-8421-3518
Yunfeng HuangDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
Richard BarbanoMovement Disorders Division, University of Rochester, Rochester, New York, USA.
Ramon RodriguezNeurology One, Orlando, Florida, USA.
Irene A MalatyDepartment of Neurology, Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.ORCID 0000-0001-6914-9223
Stephen ReichDepartment of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Kimberly BambargerDepartment of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Katie HolmesDepartment of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Joseph JankovicParkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
Neepa J PatelDepartment of Neurology, Henry Ford Health System, Henry Ford Hospital, Detroit, Michigan, USA.
Emmanuel RozeSorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle; Assistance Publique - Hôpitaux de Paris, Hôpital Salpêtrière, Département de Neurologie, Paris, France.
Marie VidailhetSorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle; Assistance Publique - Hôpitaux de Paris, Hôpital Salpêtrière, Département de Neurologie, Paris, France.
Brian D BermanDepartment of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.ORCID 0000-0002-0602-9942
Mark S LeDouxDepartment of Psychology, University of Memphis, Memphis, Tennessee, USA.
Alberto J EspayJames J and Joan A Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati Academic Health Center, Cincinnati, Ohio, USA.ORCID 0000-0002-3389-136X
Pinky AgarwalBooth Gardner Parkinson's Care Center, Evergreen Health, Kirkland, Washington, USA.
Sarah Pirio-RichardsonDepartment of Neurology, University of New Mexico, Albuquerque, New Mexico, USA.
Samuel A FrankBeth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
William G OndoDepartment of Neurology, Methodist Neurological Institute, Weill Cornell Medical School, Houston, Texas, USA.
Rachel Saunders-PullmanIcahn School of Medicine at Mount Sinai, Movement Disorders, Department of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
Sylvain ChouinardUnité des troubles du mouvement André-Barbeau, Centre Hospitalier de l'Université de Montréal, Montreal, Canada.
Stover NatividadDepartment of Neurology, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
Alfredo BerardelliDepartment of Neurology and Psychiatry, Sapienza University of Rome and IRCCS Neuromed, Rome, Italy.ORCID 0000-0003-3598-3142
Alexander Y PantelyatDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0002-6427-7485
Allison BrashearNeurology, University of California, Davis, Sacramento, California, USA.
Susan H FoxUniversity of Toronto, Edmond J Safra Program in Parkinson Disease; Movement Disorder Clinic, Toronto Western Hospital, Toronto, Ontario, Canada.
Meike KastenInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ulrike M KrämerDepartment of Neurology, University of Lübeck, Lübeck, Germany.
Miriam NeisDepartment of Neurology, University of Lübeck, Lübeck, Germany.
Tobias BäumerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Sebastian LoensInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Max BorscheInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Simone ZittelDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-3767-6376
Antonia MaurerDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Mathias GelderblomDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Jens VolkmannDepartment of Neurology, University Hospital Würzburg, Würzburg, Germany.
Thorsten OdorferDepartment of Neurology, University Hospital Würzburg, Würzburg, Germany.
Andrea A KühnDepartment of Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Friederike BorngräberDepartment of Neurology, Charité Universitätsmedizin Berlin, Berlin, Germany.ORCID 0000-0001-9650-6820
Inke R KönigInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Carlos CruchagaDepartment of Psychiatry, Washington University in St. Louis, St. Louis, Missouri, USA.
Adam C CottonDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Gamze Kilic-BerkmenDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Alan FreemanDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Stewart A FactorDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Laura ScorrDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.ORCID 0000-0002-4569-6393
J Douglas BremnerAtlanta VA Medical Center, Decatur, Georgia, USA.
Viola VaccarinoDepartment of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, USA.
Arshed A QuyyumiDepartment of Medicine, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia, USA.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Joel S PerlmutterDepartment of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University in St. Louis, St. Louis, Missouri, USA.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID 0000-0002-5121-1460
Hyder A JinnahDepartment of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Emory University · USUniversity of Lübeck · DEUniversität Hamburg · DEUniversity of Maryland, Baltimore · USCentre National de la Recherche Scientifique · FRCharité - Universitätsmedizin Berlin · DEUniversitätsklinikum Würzburg · DEWashington University in St. Louis · USAdventHealth Orlando · USBaylor College of Medicine · USBeth Israel Deaconess Medical Center · USCentre Hospitalier de l’Université de Montréal · CACornell University · USEvergreen Health Medical Center · USHenry Ford Health System · USIstituto Neurologico Mediterraneo · ITJohns Hopkins University · USMount Sinai Beth Israel · USUniversity of Alabama at Birmingham · USUniversity of California, Davis · US

Funding

Dystonia Coalition- Pilot ProjectU54NS116025 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2019 to 2023
$7.1M
Dystonia CoalitionU54NS065701 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2009 to 2014
$7.0M
Dopamine function, inflammation and connectivity in PTSDR01MH120262 · NIMH · EMORY UNIVERSITY · PI BREMNER, JAMES DOUGLAS · 2020 to 2023
$2.9M
Colorado Clinical and Translational Sciences InstituteKL2TR001080 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$2.6M
Dystonia CoalitionU54TR001456 · NCATS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2015 to 2016
$2.5M
Non-Invasive Vagal Nerve Stimulation in Patients with Opioid Use Disorders UG3DA048502 · NIDA · EMORY UNIVERSITY · PI BREMNER, JAMES DOUGLAS, INAN, OMER TOLGA · 2020 to 2021
$844k
Identification of genetic and metabolomic markers influencing dystoniaR21NS096455 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A, SUN, YAN · 2016 to 2017
$429k
NCATS NIH HHS KL2 TR001080NCATS NIH HHS U54 TR001456NIDA NIH HHS UG3 DA048502NIMH NIH HHS R01 MH120262NINDS NIH HHS R21 NS096455NINDS NIH HHS U54 NS065701NINDS NIH HHS U54 NS116025
6 · The paper itself

Abstract

backgroundSeveral monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.

objectiveTo identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach.

methodsWe performed a genome-wide association study using cervical dystonia samples from the Dystonia Coalition. Logistic and linear regressions, including age, sex, and population structure as covariates, were employed to assess variant- and gene-based genetic associations with disease status and age at onset. We also performed a replication study for an identified genome-wide significant signal.

resultsAfter quality control, 919 cervical dystonia patients compared with 1491 controls of European ancestry were included in the analyses. We identified one genome-wide significant variant (rs2219975, chromosome 3, upstream of COL8A1, P-value 3.04 × 10

conclusionThe genetic underpinnings of cervical dystonia are complex and likely consist of multiple distinct variants of small effect sizes. Larger sample sizes may be needed to provide sufficient statistical power to address the presumably multi-genic etiology of cervical dystonia. © 2021 International Parkinson and Movement Disorder Society.

Indexed as

Genome-Wide Association StudyTorticollisDeath Domain Receptor Signaling Adaptor ProteinsGene FrequencyGenetic Predisposition to DiseaseGuanine Nucleotide Exchange FactorsHumansPolymorphism, Single NucleotideReproducibility of ResultsDeath Domain Receptor Signaling Adaptor ProteinsDENND1A protein, humanGuanine Nucleotide Exchange Factorscervical dystoniagenome-wide association study (GWAS)movement disorderrare disease

Identifiers

PMID34320236
PMCPMC8688173
OpenAlexW3186574447

What OpenQuestion holds

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LicenceTDM
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.