ArticleResearch square2025
Persistent Tic Disorders Are Associated With 17q12 Duplications.
Matthew Halvorsen, Sheng Wang, Tyne Miller-Fleming, Dongmei Yu, Apostolia Topaloudi, Elles de Schipper, Julia Bäckman, David Mataix-Cols, Christian Rück, Behrang Mahjani and 18 more
Abstract readPreprint
In one paragraphArticle in Research square, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
28 authors.
Sheng Wang
Tyne Miller-Fleming
Apostolia Topaloudi
Elles de Schipper
Julia Bäckman
Behrang MahjaniIcahn School of Medicine at Mount Sinai.
Larisa Cavallari
Dominick Angiolillo
Francesco Franchi
Lea Davis
Lide Han
Douglas RuderferVanderbilt University Medical Center.
Andrea Dietrich
Luz Porras
Peristera PaschouPurdue University.
Jeremiah Scharf
Jeremy Willsey
Funding
Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7MVANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7MThe Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4MPharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4MUnderstanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C. · 2015 to 2019
$13.0MA GENETIC LINKAGE STUDY OF GTSR01NS040024 · NINDS · TOURETTE SYNDROME ASSOCIATION, INC · PI PAULS, DAVID L · 2000 to 2004
$9.5MThe Genetic Epemiology of Multiple SclerosisR01NS032830 · NINDS · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 1995 to 2010
$8.9MEpidemiologic Architecture for Genes Linked to Environment (EAGLE)U01HG004798 · NHGRI · VANDERBILT UNIVERSITY · PI CRAWFORD, DANA C · 2008 to 2013
$8.8MA Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M1/7 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
$6.8MVESPA: Vanderbilt Electronic Systems for Pharmacogenomic AssessmentRC2GM092618 · NIGMS · VANDERBILT UNIVERSITY · PI DENNY, JOSHUA C., RODEN, DAN M · 2009 to 2010
$6.4M2/7-Collaborative genomic studies of Tourette DisorderR01MH115963 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI STATE, MATTHEW W. · 2018 to 2022
$4.9MNCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1 TR002243NCRR NIH HHS S10 RR025141NCRR NIH HHS UL1 RR024975NHGRI NIH HHS U01 HG004798NHGRI NIH HHS U01 HG006378NHLBI NIH HHS U19 HL065962NICHD NIH HHS R01 HD074711NIGMS NIH HHS P50 GM115305NIGMS NIH HHS RC2 GM092618NIMH NIH HHS R01 MH096767NIMH NIH HHS R01 MH110427NIMH NIH HHS R01 MH115958NIMH NIH HHS R01 MH115959NIMH NIH HHS R01 MH115960NIMH NIH HHS R01 MH115961NIMH NIH HHS R01 MH115963NIMH NIH HHS R01 MH115993NIMH NIH HHS R01 MH124679NINDS NIH HHS K02 NS085048NINDS NIH HHS R01 NS032830NINDS NIH HHS R01 NS040024NINDS NIH HHS R01 NS105746NINDS NIH HHS U01 NS040024
6 · The paper itselfAbstract
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability. Due to current sample size limitations, identifying TS/PTD risk genes has been challenging. This study addressed this issue by conducting a meta-analysis of microarray copy number variant (CNV) studies from three TS/PTD genomics consortia, supplemented with new data from 3,291 cases. This approach more than doubled the sample size of previous TS/PTD CNV studies, with CNV calls generated from 5,725 TS/PTD cases and 10,982 matched controls. The results confirmed that TS/PTD cases 1) have a higher burden of ultra-rare deletions overlapping loss-of-function intolerant genes (OR = 1.68, P = 9.3×10^-5) and 2) are more likely to carry established neurodevelopmental CNVs (OR = 1.42, P = 3.9×10^-2) compared to controls. Additionally, a novel, genome-wide significant CNV locus for TS/PTD was discovered, involving duplications at 17q12 (hg19 chr17:34.8 - 36.2 Mb). This locus is associated with a known duplication syndrome associated with variable neuropsychiatric traits, but has not been previously linked to tic disorders. Eight cases and one control carried the canonical ~1.4 Mb duplication at chr17:34.8 - 36.2 Mb, while one additional case had a smaller 110 kb duplication within this known CNV that included only one gene,
Identifiers
PMID40894066
PMCPMC12393602
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