Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

Tsetsos, F.; Topaloudi, A.; Jain, P.; Yang, Z.; Yu, D.; Kolovos, P.; Tumer, Z.; Rizzo, R.; Hartmann, A.; Depienne, C.; Worbe, Y.; Müller-Vahl, K.R.; Cath, D.C.; Boomsma, D.I.; Wolanczyk, T.; Zekanowski, C.; Barta, C.; Nemoda, Z.; Tarnok, Z.; Padmanabhuni, S.S.; Buxbaum, J.D.; Grice, D.; Glennon, J.; Stefansson, H.; Hengerer, B.; Yannaki, E.; Stamatoyannopoulos, J.A.; Benaroya-Milshtein, N.; Cardona, F.; Hedderly, T.; Heyman, I.; Huyser, C.; Mir, P.; Morer, A.; Mueller, N.; Munchau, A.; Plessen, K.J.; Porcelli, C.; Roessner, V.; Walitza, S.; Schrag, A.; Martino, D.; Tischfield, J.A.; Heiman, G.A.; Willsey, A.J.; Dietrich, A.; Davis, L.K.; Crowley, J.J.; Mathews, C.A.; Scharf, J.M.; Georgitsi, M.; Hoekstra, P.J.; Paschou, P.

doi:10.1016/j.biopsych.2023.01.023

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

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Serval ID

serval:BIB_ADAB15875117

Type

Article: article from journal or magazin.

Collection

Publications

Institution

UNIL/CHUV

Title

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

Journal

Biological psychiatry

Author(s)

Tsetsos F., Topaloudi A., Jain P., Yang Z., Yu D., Kolovos P., Tumer Z., Rizzo R., Hartmann A., Depienne C., Worbe Y., Müller-Vahl K.R., Cath D.C., Boomsma D.I., Wolanczyk T., Zekanowski C., Barta C., Nemoda Z., Tarnok Z., Padmanabhuni S.S., Buxbaum J.D., Grice D., Glennon J., Stefansson H., Hengerer B., Yannaki E., Stamatoyannopoulos J.A., Benaroya-Milshtein N., Cardona F., Hedderly T., Heyman I., Huyser C., Mir P., Morer A., Mueller N., Munchau A., Plessen K.J., Porcelli C., Roessner V., Walitza S., Schrag A., Martino D., Tischfield J.A., Heiman G.A., Willsey A.J., Dietrich A., Davis L.K., Crowley J.J., Mathews C.A., Scharf J.M., Georgitsi M., Hoekstra P.J., Paschou P.

Working group(s)

PGC TS Working Group, TSAICG, TSGeneSEE Initiative, EMTICS Collaborative Group, TS-EUROTRAIN Network, TIC Genetics Collaborative Group

Contributor(s)

Barr C.L., Batterson J.R., Berlin C., Budman C.L., Coppola G., Cox N.J., Darrow S., Dion Y., Freimer N.B., Grados M.A., Greenberg E., Hirschtritt M.E., Huang A.Y., Illmann C., King R.A., Kurlan R., Leckman J.F., Lyon G.J., Malaty I.A., McMahon W.M., Neale B.M., Okun M.S., Osiecki L., Robertson M.M., Rouleau G.A., Sandor P., Singer H.S., Smit J.H., Sul J.H., Androutsos C., Basha E., Farkas L., Fichna J., Janik P., Kapisyzi M., Karagiannidis I., Koumoula A., Nagy P., Puchala J., Szejko N., Szymanska U., Tsironi V., Apter A., Ball J., Bodmer B., Bognar E., Buse J., Vela M.C., Fremer C., Garcia-Delgar B., Gulisano M., Hagen A., Hagstrøm J., Madruga-Garrido M., Nagy P., Pellico A., Ruhrman D., Schnell J., Silvestri P.R., Skov L., Steinberg T., Gloor F.T., Turner V.L., Weidinger E., Alexander J., Aranyi T., Buisman W.R., Buitelaar J.K., Driessen N., Drineas P., Fan S., Forde N.J., Gerasch S., van den Heuvel O.A., Jespersgaard C., Kanaan A.S., Möller H.E., Nawaz M.S., Nespoli E., Pagliaroli L., Poelmans G., Pouwels PJW, Rizzo F., Veltman D.J., van der Werf Y.D., Widomska J., Zilhäo N.R., Brown L.W., Cheon K.A., Coffey B.J., Fernandez T.V., Garcia-Delgar B., Gilbert D.L., Hagstrøm J., Hong H.J., Ibanez-Gomez L., Kim E.J., Kim Y.K., Kim Y.S., King R.A., Koh Y.J., Kook S., Kuperman S., Leventhal B.L., Madruga-Garrido M., Maras A., Murphy T.L., Shin E.Y., Song D.H., Song J., State M.W., Visscher F., Wang S., Zinner S.H.

ISSN

1873-2402 (Electronic)

ISSN-L

0006-3223

Publication state

Published

Issued date

15/07/2024

Peer-reviewed

Oui

Volume

Number

Pages

114-124

Language

english

Notes

Publication types: Journal Article ; Meta-Analysis
Publication Status: ppublish

Abstract

Tourette 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.
We 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.
We 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.
Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.

Keywords

Tourette Syndrome/genetics, Humans, Genome-Wide Association Study, Male, Female, Quantitative Trait Loci, Chromosomes, Human, Pair 5/genetics, Child, Genetic Predisposition to Disease, Putamen/diagnostic imaging, Brain/diagnostic imaging, Brain/pathology, Adolescent, RNA, Long Noncoding/genetics, GWAS, Meta-analysis, NR2F1, Tourette syndrome

OAI-PMH

oai:serval.unil.ch:BIB_ADAB15875117

DOI

10.1016/j.biopsych.2023.01.023

Pubmed

36738982

Create date

14/02/2023 12:30

Last modification date

29/06/2024 8:30

Usage data

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Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

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