The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods

Verfasser / Beitragende:
[Andrea Dietrich, Thomas Fernandez, Robert King, Matthew State, Jay Tischfield, Pieter Hoekstra, Gary Heiman]
Ort, Verlag, Jahr:
2015
Enthalten in:
European Child & Adolescent Psychiatry, 24/2(2015-02-01), 141-151
Format:
Artikel (online)
ID: 605477558
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245 0 4 |a The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods  |h [Elektronische Daten]  |c [Andrea Dietrich, Thomas Fernandez, Robert King, Matthew State, Jay Tischfield, Pieter Hoekstra, Gary Heiman] 
520 3 |a Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS. 
540 |a The Author(s), 2014 
690 7 |a Genes  |2 nationallicence 
690 7 |a Methods  |2 nationallicence 
690 7 |a Multiplex families  |2 nationallicence 
690 7 |a Rare variants  |2 nationallicence 
690 7 |a Repository  |2 nationallicence 
690 7 |a Tourette syndrome  |2 nationallicence 
690 7 |a Trios  |2 nationallicence 
700 1 |a Dietrich  |D Andrea  |u Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands  |4 aut 
700 1 |a Fernandez  |D Thomas  |u Yale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA  |4 aut 
700 1 |a King  |D Robert  |u Yale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA  |4 aut 
700 1 |a State  |D Matthew  |u Department of Psychiatry, University of California, San Francisco, USA  |4 aut 
700 1 |a Tischfield  |D Jay  |u Department of Genetics, The Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Life Science Building, 145 Bevier Road, 08854-8082, Piscataway, NJ, USA  |4 aut 
700 1 |a Hoekstra  |D Pieter  |u Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands  |4 aut 
700 1 |a Heiman  |D Gary  |u Department of Genetics, The Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Life Science Building, 145 Bevier Road, 08854-8082, Piscataway, NJ, USA  |4 aut 
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856 4 0 |u https://doi.org/10.1007/s00787-014-0543-x  |q text/html  |z Onlinezugriff via DOI 
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950 |B NATIONALLICENCE  |P 700  |E 1-  |a Dietrich  |D Andrea  |u Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Fernandez  |D Thomas  |u Yale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a King  |D Robert  |u Yale Child Study Center and Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a State  |D Matthew  |u Department of Psychiatry, University of California, San Francisco, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Tischfield  |D Jay  |u Department of Genetics, The Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Life Science Building, 145 Bevier Road, 08854-8082, Piscataway, NJ, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Hoekstra  |D Pieter  |u Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Heiman  |D Gary  |u Department of Genetics, The Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Life Science Building, 145 Bevier Road, 08854-8082, Piscataway, NJ, USA  |4 aut 
950 |B NATIONALLICENCE  |P 773  |E 0-  |t European Child & Adolescent Psychiatry  |d Springer Berlin Heidelberg  |g 24/2(2015-02-01), 141-151  |x 1018-8827  |q 24:2<141  |1 2015  |2 24  |o 787