SynthesisBiological psychiatry2024
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Biological psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 2 pooled it
7.8field-weighted citation impact, top 2% of its field
What it found
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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.
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.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Genome-Wide Association Study Meta-Analysis of 9619 Cases With Tic Disorders.Biological psychiatry · 2025Pooled it
- The genetics of trichotillomania and excoriation disorder: A systematic review.Comprehensive psychiatry · 2024Pooled it
- Tourette syndrome.Nature reviews. Disease primers · 2026Review
- Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Proneness to infections and familial risk of tic disorders.Psychological medicine · 2026Article
- Circulating microRNA molecular signatures converge with erythroid phenotypes and iron homeostasis in pediatric tic disorders.Frontiers in psychiatry · 2026Article
- Rare coding variation in OCD implicates shared genes with other psychiatric disorders.medRxiv : the preprint server for health sciences · 2025Article
- Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.Journal of applied genetics · 2025Article
- Interneuron Loss and Microglia Activation by Transcriptome Analyses in the Basal Ganglia of Tourette Disorder.Biological psychiatry · 2025Article
- A practical guide to sequencing in neuropsychiatric research.NPP - digital psychiatry and neuroscience · 2025Review
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Tourette syndrome research highlights from 2023.F1000Research · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
59 authors at 20 institutions in 16 countries.
Fotis TsetsosDepartment of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.
Apostolia TopaloudiDepartment of Biological Sciences, Purdue University, West Lafayette, Indiana.
Pritesh JainDepartment of Biological Sciences, Purdue University, West Lafayette, Indiana.
Zhiyu YangDepartment of Biological Sciences, Purdue University, West Lafayette, Indiana.
Dongmei YuPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Petros KolovosDepartment of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.
Zeynep TumerDepartment of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Renata RizzoChild and Adolescent Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Andreas HartmannDepartment of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France.
Christel DepienneInstitute for Human Genetics, University Hospital Essen, Essen, Germany.
Yulia WorbeAssistance Publique Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France; French Reference Centre for Gilles de la Tourette Syndrome, Sorbonne University, Faculty of Medicine, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Kirsten R Müller-VahlDepartment of Psychiatry, Social Psychiatry and Psychotherapy, Hannover Medical School, Hannover, Germany.
Danielle C CathDepartment of Clinical and Health Psychology, Utrecht University, Utrecht, Netherlands.
Dorret I BoomsmaInstitute for Anatomy and Cell Biology, Ulm University, Ulm, Germany; EMGO+ Institute for Health and Care Research, VU University Medical Centre, Amsterdam, the Netherlands.
Tomasz WolanczykDepartment of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.
Cezary ZekanowskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
Csaba BartaDepartment of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis Egyetem, Budapest, Hungary.
Zsofia NemodaDepartment of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis Egyetem, Budapest, Hungary.
Zsanett TarnokVadaskert Clinic for Child and Adolescent Psychiatry, Budapest, Hungary.
Shanmukha S PadmanabhuniDepartment of Biological Sciences, Purdue University, West Lafayette, Indiana.
Joseph D BuxbaumDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
Dorothy GriceDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Tics, OCD, and Related Disorders, Icahn School of Medicine at Mount Sinai, New York, New York.
Jeffrey GlennonDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Hreinn StefanssondeCODE Genetics, Amgen, Iceland.
Bastian HengererBoehringer Ingelheim Pharma GmbH & Co. KG, CNS Research, Biberach, Germany.
Evangelia YannakiHematology Department, Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, George Papanikolaou Hospital, Thessaloniki, Greece; Department of Medicine, University of Washington, Seattle, Washington.
John A StamatoyannopoulosAltius Institute for Biomedical Sciences, Seattle, Washington; Department of Genome Sciences, University of Washington, Seattle, Washington; Department of Medicine, Division of Oncology, University of Washington, Seattle, Washington.
Noa Benaroya-MilshteinChild and Adolescent Psychiatry Department, Schneider Children's Medical Center of Israel, Petah-Tikva. Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Francesco CardonaDepartment of Human Neurosciences, University La Sapienza of Rome, Rome, Italy.
Tammy HedderlyEvelina London Children's Hospital GSTT, Kings Health Partners AHSC, London, UK.
Isobel HeymanPsychological Medicine, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Chaim HuyserLevvel Academic Center for Child and Adolescent Psychiatry, Amsterdam, the Netherlands; Amsterdam UMC, Department of Child and Adolescent Psychiatry, Amsterdam, the Netherlands.
Pablo MirUnidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Astrid MorerDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain; Centro de Investigacion en Red de Salud Mental, Instituto Carlos III, Madrid, Spain.
Norbert MuellerDepartment of Psychiatry and Psychotherapy, University Hospital, LMU Munich, Munich, Germany.
Alexander MunchauInstitute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
Kerstin J PlessenChild and Adolescent Mental Health Centre, Mental Health Services, Capital Region of Denmark and University of Copenhagen, Copenhagen, Denmark; Division of Child and Adolescent Psychiatry, Department of Psychiatry, Lausanne University Hospital, Lausanne, Switzerland.
Cesare PorcelliASL BA, Maternal and Childood Department, Adolescence and Childhood Neuropsychiatry Unit, Bari, Italy.
Veit RoessnerDepartment of Child and Adolescent Psychiatry, Medical Faculty Carl Gustav Carus, TU Dresden, Dresden, Germany.
Susanne WalitzaDepartment of Child and Adolescent Psychiatry and Psychotherapy, University of Zürich, Zurich, Switzerland.
Anette SchragDepartment of Clinical Neuroscience, UCL Institute of Neurology, University College London, London, UK.
Davide MartinoDepartment of Clinical Neurosciences, Cumming School of Medicine & Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
PGC TS Working Group
TSAICG
TSGeneSEE Initiative
EMTICS Collaborative Group
TS-EUROTRAIN Network
TIC Genetics Collaborative Group
Jay A TischfieldDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey.
Gary A HeimanDepartment of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey.
A Jeremy WillseyDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California; Quantitative Biosciences Institute, University of California, San Francisco, San Francisco, California.
Andrea DietrichUniversity of Groningen, University Medical Center Groningen, Department of Child and Adolescent Psychiatry, Groningen, the Netherlands.
Lea K DavisDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center Nashville, Nashville, Tennessee; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
James J CrowleyDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Carol A MathewsDepartment of Psychiatry and Genetics Institute, University of Florida College of Medicine, Gainesville, Florida.
Jeremiah M ScharfPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Marianthi Georgitsi1st Laboratory of Medical Biology-Genetics, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Pieter J HoekstraUniversity of Groningen, University Medical Center Groningen, Department of Child and Adolescent Psychiatry, Groningen, the Netherlands. Electronic address: p.hoekstra@accare.nl.
Peristera PaschouDepartment of Biological Sciences, Purdue University, West Lafayette, Indiana. Electronic address: ppaschou@purdue.edu.
Purdue University West Lafayette · USDemocritus University of Thrace · GRdeCODE Genetics (Iceland) · ISFlorida College · USRutgers, The State University of New Jersey · USUniversity of Catania · ITUniversity of Groningen · NLUniversity of Lübeck · DEUniversity of Washington · USVanderbilt University Medical Center · USAmsterdam University Medical Centers · NLAristotle University of Thessaloniki · GRAssistance Publique – Hôpitaux de Paris · FRBoehringer Ingelheim (Germany) · DEBroad Institute · USChild Health and Development Institute · USConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESEMGO Institute for Health and Care Research · NLEssen University Hospital · DEEvelina London Children's Healthcare · GB
Funding
The NINDS Human Cell and Data Repository (U24 renewal)U24NS095914 · NINDS · RUTGERS, THE STATE UNIV OF N.J. · PI Azadeh Jadali, JAMES A KNOWLES · 2015 to 2026
$15.9MOverall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3MA Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0MIntegrating Common and Rare Variation to Discover Genes Associated with Tourette SyndromeR01NS102371 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, OPHOFF, ROEL A · 2018 to 2022
$7.4M1/7 Collaborative Genomic Studies of Tourette Disorder.R01MH115958 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2018 to 2023
$6.8M2/7-Collaborative genomic studies of Tourette DisorderR01MH115963 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W., WILLSEY, ARTHUR JEREMY · 2018 to 2022
$4.9MLarge-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1MOCD: Novel Comparative Genomic Approaches to Identify Disease and Treatment MechanismsR01MH110427 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH · 2016 to 2021
$3.0MTourette Syndrome genetics and neuroimaging international collaborative studyR01MH126213 · NIMH · PURDUE UNIVERSITY · PI Peristera Paschou · 2022 to 2026
$2.5MAdvancing Tourette Syndrome genetics using bioinformatics and genome biologyK02NS085048 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2014 to 2018
$1.0M4/7-Collaborative genomic studies of Tourette DisorderR01MH115962 · NIMH · CINCINNATI CHILDRENS HOSP MED CTR · PI GILBERT, DONALD L · 2018 to 2022
$810k7/7-Collaborative genomic studies of Tourette DisorderR01MH115959 · NIMH · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI COFFEY, BARBARA JANE · 2018 to 2022
$690kNICHD NIH HHS P50 HD103537NIMH NIH HHS R01 MH110427NIMH NIH HHS R01 MH115958NIMH NIH HHS R01 MH115959NIMH NIH HHS R01 MH115960NIMH NIH HHS R01 MH115961NIMH NIH HHS R01 MH115962NIMH NIH HHS R01 MH115963NIMH NIH HHS R01 MH115993NIMH NIH HHS R01 MH126213NINDS NIH HHS K02 NS085048NINDS NIH HHS R01 NS102371NINDS NIH HHS R01 NS105746NINDS NIH HHS U01 NS040024NINDS NIH HHS U24 NS095914
Abstract
backgroundTourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year.
methodsWe performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6133 individuals with TS and 13,565 ancestry-matched control participants.
resultsWe identified a genome-wide significant locus on chromosome 5q15. Integration of expression quantitative trait locus, Hi-C (high-throughput chromosome conformation capture), and genome-wide association study data implicated the NR2F1 gene and associated long noncoding RNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring of brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume.
conclusionsOur work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.
Indexed as
Genome-Wide Association StudyTourette SyndromeAdolescentBrainChildChromosomes, Human, Pair 5FemaleGenetic Predisposition to DiseaseHumansMalePutamenQuantitative Trait LociRNA, Long NoncodingRNA, Long NoncodingGWASMeta-analysisNR2F1Tourette syndrome
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