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

被引:27
作者
Dietrich, Andrea [1 ]
Fernandez, Thomas V. [2 ,3 ]
King, Robert A. [2 ,3 ]
State, Matthew W. [4 ]
Tischfield, Jay A. [5 ]
Hoekstra, Pieter J. [1 ]
Heiman, Gary A. [5 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands
[2] Yale Univ, Sch Med, Yale Child Study Ctr, New Haven, CT USA
[3] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA
[4] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA
[5] Rutgers State Univ, Human Genet Inst New Jersey, Dept Genet, Piscataway, NJ 08854 USA
关键词
Genes; Methods; Multiplex families; Rare variants; Repository; Tourette syndrome; Trios; OBSESSIVE-COMPULSIVE DISORDER; EUROPEAN CLINICAL GUIDELINES; PSYCHIATRIC-DISORDERS; BEHAVIOR-THERAPY; MAJOR GENE; CHILDREN; SCALE; VARIANTS; SEVERITY; DECARBOXYLASE;
D O I
10.1007/s00787-014-0543-x
中图分类号
B844 [发展心理学(人类心理学)];
学科分类号
040202 ;
摘要
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.
引用
收藏
页码:141 / 151
页数:11
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