Медицинская библиотека · Biological psychiatry · 2023

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

Tsetsos Fotis, Topaloudi Apostolia, Jain Pritesh, Yang Zhiyu, Yu Dongmei, Kolovos Petros, Tumer Zeynep, Rizzo Renata, Hartmann Andreas, Depienne Christel, Worbe Yulia, Müller-Vahl Kirsten R, Cath Danielle C, Boomsma Dorret I, Wolanczyk Tomasz, Zekanowski Cezary, Barta Csaba, Nemoda Zsofia, Tarnok Zsanett, Padmanabhuni Shanmukha S, Buxbaum Joseph D, Grice Dorothy, Glennon Jeffrey, Stefansson Hreinn, Hengerer Bastian, Yannaki Evangelia, Stamatoyannopoulos John A, Benaroya-Milshtein Noa, Cardona Francesco, Hedderly Tammy, Heyman Isobel, Huyser Chaim, Mir Pablo, Morer Astrid, Mueller Norbert, Munchau Alexander, Plessen Kerstin J, Porcelli Cesare, Roessner Veit, Walitza Susanne, Schrag Anette, Martino Davide, PGC TS Working Group, TSAICG, TSGeneSEE Initiative, EMTICS Collaborative Group, TS-EUROTRAIN Network, TIC Genetics Collaborative Group, Tischfield Jay A, Heiman Gary A, Willsey A Jeremy, Dietrich Andrea, Davis Lea K, Crowley James J, Mathews Carol A, Scharf Jeremiah M, Georgitsi Marianthi, Hoekstra Pieter J, Paschou Peristera

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Аннотация

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.

Для цитирования: Tsetsos Fotis, Topaloudi Apostolia, Jain Pritesh, Yang Zhiyu, Yu Dongmei, Kolovos Petros, Tumer Zeynep, Rizzo Renata, Hartmann Andreas, Depienne Christel, Worbe Yulia, Müller-Vahl Kirsten R, Cath Danielle C, Boomsma Dorret I, Wolanczyk Tomasz, Zekanowski Cezary, Barta Csaba, Nemoda Zsofia, Tarnok Zsanett, Padmanabhuni Shanmukha S, Buxbaum Joseph D, Grice Dorothy, Glennon Jeffrey, Stefansson Hreinn, Hengerer Bastian, Yannaki Evangelia, Stamatoyannopoulos John A, Benaroya-Milshtein Noa, Cardona Francesco, Hedderly Tammy, Heyman Isobel, Huyser Chaim, Mir Pablo, Morer Astrid, Mueller Norbert, Munchau Alexander, Plessen Kerstin J, Porcelli Cesare, Roessner Veit, Walitza Susanne, Schrag Anette, Martino Davide, PGC TS Working Group, TSAICG, TSGeneSEE Initiative, EMTICS Collaborative Group, TS-EUROTRAIN Network, TIC Genetics Collaborative Group, Tischfield Jay A, Heiman Gary A, Willsey A Jeremy, Dietrich Andrea, Davis Lea K, Crowley James J, Mathews Carol A, Scharf Jeremiah M, Georgitsi Marianthi, Hoekstra Pieter J, Paschou Peristera. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.. Biological psychiatry. 2023. DOI: 10.1016/j.biopsych.2023.01.023.

Предметные рубрики MeSH

Tourette Syndrome Humans Genome-Wide Association Study Male Female Quantitative Trait Loci Chromosomes, Human, Pair 5 Child Genetic Predisposition to Disease Putamen Brain Adolescent RNA, Long Noncoding

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