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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. / The PGC TS Working Group; The TSAICG; The TSGeneSEE Initiative; The EMTICS Collaborative Group; The TS-EUROTRAIN Network; The TIC Genetics Collaborative Group.

In: Biological Psychiatry, 2023.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

The PGC TS Working Group, The TSAICG, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The TIC Genetics Collaborative Group 2023, 'Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome', Biological Psychiatry. https://doi.org/10.1016/j.biopsych.2023.01.023

APA

The PGC TS Working Group, The TSAICG, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network, & The TIC Genetics Collaborative Group (2023). Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological Psychiatry. https://doi.org/10.1016/j.biopsych.2023.01.023

Vancouver

The PGC TS Working Group, The TSAICG, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network, The TIC Genetics Collaborative Group. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological Psychiatry. 2023. https://doi.org/10.1016/j.biopsych.2023.01.023

Author

The PGC TS Working Group ; The TSAICG ; The TSGeneSEE Initiative ; The EMTICS Collaborative Group ; The TS-EUROTRAIN Network ; The TIC Genetics Collaborative Group. / Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. In: Biological Psychiatry. 2023.

Bibtex

@article{e5dfc632b098400892e592fe7f3577dd,
title = "Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome",
abstract = "Background: 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. Methods: 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. Results: 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. Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.",
keywords = "GWAS, Meta-analysis, NR2F1, Tourette syndrome",
author = "Fotis Tsetsos and Apostolia Topaloudi and Pritesh Jain and Zhiyu Yang and Dongmei Yu and Petros Kolovos and Zeynep Tumer and Renata Rizzo and Andreas Hartmann and Christel Depienne and Yulia Worbe and M{\"u}ller-Vahl, {Kirsten R.} and Cath, {Danielle C.} and Boomsma, {Dorret I.} and Tomasz Wolanczyk and Cezary Zekanowski and Csaba Barta and Zsofia Nemoda and Zsanett Tarnok and Padmanabhuni, {Shanmukha S.} and Buxbaum, {Joseph D.} and Dorothy Grice and Jeffrey Glennon and Hreinn Stefansson and Bastian Hengerer and Evangelia Yannaki and Stamatoyannopoulos, {John A.} and Noa Benaroya-Milshtein and Francesco Cardona and Tammy Hedderly and Isobel Heyman and Chaim Huyser and Pablo Mir and Astrid Morer and Norbert Mueller and Alexander Munchau and Plessen, {Kerstin J.} and Cesare Porcelli and Veit Roessner and Susanne Walitza and Anette Schrag and Davide Martino and Barr, {Cathy L.} and Batterson, {James R.} and Cheston Berlin and Budman, {Cathy L.} and Julie Hagstr{\o}m and Liselotte Skov and Cathrine Jespersgaard and Francesca Rizzo and {The PGC TS Working Group} and {The TSAICG} and {The TSGeneSEE Initiative} and {The EMTICS Collaborative Group} and {The TS-EUROTRAIN Network} and {The TIC Genetics Collaborative Group}",
note = "Publisher Copyright: {\textcopyright} 2023 Society of Biological Psychiatry",
year = "2023",
doi = "10.1016/j.biopsych.2023.01.023",
language = "English",
journal = "Biological Psychiatry",
issn = "0006-3223",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

AU - Tsetsos, Fotis

AU - Topaloudi, Apostolia

AU - Jain, Pritesh

AU - Yang, Zhiyu

AU - Yu, Dongmei

AU - Kolovos, Petros

AU - Tumer, Zeynep

AU - Rizzo, Renata

AU - Hartmann, Andreas

AU - Depienne, Christel

AU - Worbe, Yulia

AU - Müller-Vahl, Kirsten R.

AU - Cath, Danielle C.

AU - Boomsma, Dorret I.

AU - Wolanczyk, Tomasz

AU - Zekanowski, Cezary

AU - Barta, Csaba

AU - Nemoda, Zsofia

AU - Tarnok, Zsanett

AU - Padmanabhuni, Shanmukha S.

AU - Buxbaum, Joseph D.

AU - Grice, Dorothy

AU - Glennon, Jeffrey

AU - Stefansson, Hreinn

AU - Hengerer, Bastian

AU - Yannaki, Evangelia

AU - Stamatoyannopoulos, John A.

AU - Benaroya-Milshtein, Noa

AU - Cardona, Francesco

AU - Hedderly, Tammy

AU - Heyman, Isobel

AU - Huyser, Chaim

AU - Mir, Pablo

AU - Morer, Astrid

AU - Mueller, Norbert

AU - Munchau, Alexander

AU - Plessen, Kerstin J.

AU - Porcelli, Cesare

AU - Roessner, Veit

AU - Walitza, Susanne

AU - Schrag, Anette

AU - Martino, Davide

AU - Barr, Cathy L.

AU - Batterson, James R.

AU - Berlin, Cheston

AU - Budman, Cathy L.

AU - Hagstrøm, Julie

AU - Skov, Liselotte

AU - Jespersgaard, Cathrine

AU - Rizzo, Francesca

AU - The PGC TS Working Group

AU - The TSAICG

AU - The TSGeneSEE Initiative

AU - The EMTICS Collaborative Group

AU - The TS-EUROTRAIN Network

AU - The TIC Genetics Collaborative Group

N1 - Publisher Copyright: © 2023 Society of Biological Psychiatry

PY - 2023

Y1 - 2023

N2 - Background: 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. Methods: 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. Results: 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. Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.

AB - Background: 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. Methods: 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. Results: 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. Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.

KW - GWAS

KW - Meta-analysis

KW - NR2F1

KW - Tourette syndrome

U2 - 10.1016/j.biopsych.2023.01.023

DO - 10.1016/j.biopsych.2023.01.023

M3 - Journal article

C2 - 36738982

AN - SCOPUS:85151260500

JO - Biological Psychiatry

JF - Biological Psychiatry

SN - 0006-3223

ER -

ID: 342971330