Evidence map›Paper›PMID 30902966›Full record

ArticleTranslational psychiatry2019

Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry.

Mary Mufford, Josh Cheung, Neda Jahanshad, Celia van der Merwe, Linda Ding, Nynke Groenewold, Nastassja Koen, Emile R Chimusa, Shareefa Dalvie, Raj Ramesar and 11 more

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 3 pooled it
6.8field-weighted citation impact, top 3% 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

14 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Pooled it
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  13. Brain Imaging Genomics: Integrated Analysis and Machine Learning.Proceedings of the IEEE. Institute of Electrical and Electronics Engineers · 2020
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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

21 authors at 8 institutions in 4 countries.

Mary MuffordHuman Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID http://orcid.org/0000-0002-8409-9217
Josh CheungImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Neda JahanshadImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Celia van der MerweHuman Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Linda DingImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Nynke GroenewoldDepartment of Psychiatry and MRC Unit on Risk & Resilience, University of Cape Town, Cape Town, South Africa.
Nastassja KoenDepartment of Psychiatry and MRC Unit on Risk & Resilience, University of Cape Town, Cape Town, South Africa.
Emile R ChimusaHuman Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID http://orcid.org/0000-0001-8846-2047
Shareefa DalvieDepartment of Psychiatry and MRC Unit on Risk & Resilience, University of Cape Town, Cape Town, South Africa.
Raj RamesarHuman Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
James A KnowlesDepartment of Psychiatry and the Behavioural Sciences, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Christine LochnerDepartment of Psychiatry, University of Stellenbosch, Stellenbosch, South Africa.
Derrek P HibarImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Peristera PaschouDepartment of Biological Sciences, Purdue University, West Lafayette, IN, USA.
Odile A van den HeuvelDepartment of Psychiatry, Department of Anatomy & Neurosciences, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jeremiah M ScharfPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Harvard Medical School, Boston, MA, USA.
Carol A MathewsDepartment of Psychiatry, Genetics Institute, University of Florida, Gainesville, FL, USA.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging & Informatics Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.
Dan J SteinDepartment of Psychiatry and MRC Unit on Risk & Resilience, University of Cape Town, Cape Town, South Africa. dan.stein@uct.ac.za.
Psychiatric Genomics Consortium - Tourette Syndrome working group
University of Cape Town · ZAUniversity of Southern California · USAmsterdam Neuroscience · NLHarvard University · USPurdue University West Lafayette · USQIMR Berghofer Medical Research Institute · AUStellenbosch University · ZAUniversity of Florida · US

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
A GENETIC LINKAGE STUDY OF GTSR01NS040024 · NINDS · TOURETTE SYNDROME ASSOCIATION, INC · PI PAULS, DAVID L · 2000 to 2004
$9.5M
GENETICS OF TOURETTE SYNDROMER01NS016648 · NINDS · YALE UNIVERSITY · PI PAULS, DAVID L · 1985 to 2009
$9.0M
A Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M
Integrating 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
$7.4M
1/7 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
$6.8M
Large-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1M
3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7M
2/8-Collaborative genomic studies of Tourette DisorderR01MH092289 · NIMH · YALE UNIVERSITY · PI STATE, MATTHEW W. · 2011 to 2013
$898k
1/8-Collaborative genomic studies of Tourette DisorderR01MH092293 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2011 to 2013
$510k
Collaborative Genomic Studies of Tourette Disorder SupplementR01MH115961 · NIMH · UNIVERSITY OF IOWA · PI KUPERMAN, SAMUEL · 2018 to 2022
$475k
NIBIB NIH HHS U54 EB020403NIMH NIH HHS R01 MH092289NIMH NIH HHS R01 MH092290NIMH NIH HHS R01 MH092291NIMH NIH HHS R01 MH092292NIMH NIH HHS R01 MH092293NIMH NIH HHS R01 MH092513NIMH NIH HHS R01 MH092516NIMH NIH HHS R01 MH092520NIMH NIH HHS R01 MH115958NIMH NIH HHS R01 MH115961NIMH NIH HHS U01 MH109536NIMH NIH HHS U24 MH068457NINDS NIH HHS R01 NS016648NINDS NIH HHS R01 NS040024NINDS NIH HHS R01 NS102371NINDS NIH HHS R01 NS105746NINDS NIH HHS U01 NS040024
6 · The paper itself

Abstract

There have been considerable recent advances in understanding the genetic architecture of Tourette syndrome (TS) as well as its underlying neurocircuitry. However, the mechanisms by which genetic variation that increases risk for TS-and its main symptom dimensions-influence relevant brain regions are poorly understood. Here we undertook a genome-wide investigation of the overlap between TS genetic risk and genetic influences on the volume of specific subcortical brain structures that have been implicated in TS. We obtained summary statistics for the most recent TS genome-wide association study (GWAS) from the TS Psychiatric Genomics Consortium Working Group (4644 cases and 8695 controls) and GWAS of subcortical volumes from the ENIGMA consortium (30,717 individuals). We also undertook analyses using GWAS summary statistics of key symptom factors in TS, namely social disinhibition and symmetry behaviour. SNP effect concordance analysis (SECA) was used to examine genetic pleiotropy-the same SNP affecting two traits-and concordance-the agreement in single nucelotide polymorphism (SNP) effect directions across these two traits. In addition, a conditional false discovery rate (FDR) analysis was performed, conditioning the TS risk variants on each of the seven subcortical and the intracranial brain volume GWAS. Linkage disequilibrium score regression (LDSR) was used as validation of the SECA method. SECA revealed significant pleiotropy between TS and putamen (p = 2 × 10

Indexed as

Polymorphism, Single NucleotideCase-Control StudiesDNA Mutational AnalysisGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHippocampusHumansLinkage DisequilibriumMagnetic Resonance ImagingNeural PathwaysPutamenTourette Syndrome

Identifiers

PMID30902966
PMCPMC6430767
OpenAlexW2951648296

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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.