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

ISSN

1873-2402 (Electronic)

ISSN-L

0006-3223

Publication state

In Press

Peer-reviewed

Oui

Language

english

Notes

Publication types: Journal Article
Publication Status: aheadofprint

Abstract

Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture, characterized by multiple motor tics and at least one vocal tic persisting for more than one year.
We performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6,133 TS individuals and 13,565 ancestry-matched controls.
We identified a genome-wide significant locus on chromosome 5q15. Integration of eQTL, Hi-C and GWAS data implicated the NR2F1 gene and associated lncRNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring on brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume.
Our work presents novel insights in the neurobiology of TS opening up new directions for future studies.

Keywords

GWAS, NR2F1, Tourette Syndrome, meta-analysis

OAI-PMH

oai:serval.unil.ch:BIB_ADAB15875117

DOI

10.1016/j.biopsych.2023.01.023

Pubmed

36738982

Create date

14/02/2023 13:30

Last modification date

28/02/2023 7:51

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Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome.

Details