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

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ID Serval
serval:BIB_ADAB15875117
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
UNIL/CHUV
Titre
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Périodique
Biological psychiatry
Auteur⸱e⸱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.
Collaborateur⸱rice⸱s
PGC TS Working Group, TSAICG, TSGeneSEE Initiative, EMTICS Collaborative Group, TS-EUROTRAIN Network, TIC Genetics Collaborative Group
Contributeur⸱rice⸱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
Statut éditorial
Publié
Date de publication
15/07/2024
Peer-reviewed
Oui
Volume
96
Numéro
2
Pages
114-124
Langue
anglais
Notes
Publication types: Journal Article ; Meta-Analysis
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/02/2023 13:30
Dernière modification de la notice
29/06/2024 9:30
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