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The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery

Year: 2016
Type: article
Abstract: Gilles de la Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive. However, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG) has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS), copy number variation (CNV) scans, and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios, and multigenerational families. The European Multicentre Tics in Children Study (EMTICS) seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for identifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder.
DOI: 10.3389/fnins.2016.00351
Authors: Marianthi Georgitsi, A. Jeremy Willsey, Carol A. Mathews, Matthew State, Jeremiah M. Scharf, Peristera Paschou
Institutions: Democritus University of Thrace, Aristotle University of Thessaloniki, University of California, San Francisco, University of Florida Health, University of Florida, Harvard University, Massachusetts General Hospital
Language: English
Field: Psychology
Open Access status: gold
Estimated APC paid: $3,801
Funders: Tourette Association of America, European Commission, National Institutes of Health, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, FP7 People: Marie-Curie Actions
Awards: Translational phenomics and genomics of Gilles de la Tourette Syndrome, 1/8-Collaborative genomic studies of Tourette Disorder, European Multicentre Tics in Children Studies, Advancing Tourette Syndrome genetics using bioinformatics and genome biology, G2973790809, G3207356259, 2/8-Collaborative genomic studies of Tourette Disorder, G393177772, 1st World Congress on Tourette Syndrome and Tic Disorders, 4/8-Collaborative genomic studies of Tourette Disorder, G4053127980, Interdisciplinary training network for Tourette Syndrome; structuring European Training capacities for neurodevelopmental disorders, G4626508987, A Genetic Linkage Study of GTS, G5702163051, Refining the Tourette Syndrome phenotype across diagnoses to aid gene discovery, G6343321671, G682275100, G7401113806
OpenAlex ID: W2495947776
FWCI: 11.07
Cites: 86
Cited by: 60
Related to: 10