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Family-based genetic association study of DLGAP3 in Tourette Syndrome

Authors

  • Jacquelyn Crane,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Jesen Fagerness,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Lisa Osiecki,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Boyd Gunnell,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • S. Evelyn Stewart,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • David L. Pauls,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Jeremiah M. Scharf,

    Corresponding author
    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
    3. Movement Disorders Unit, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts
    4. Division of Cognitive and Behavioral Neurology, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts
    • Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Richard B. Simches Research Building, 185 Cambridge Street, 6th floor, Boston, MA 02114.
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  • the Tourette Syndrome International Consortium for Genetics (TSAICG)

    1. Tourette Syndrome Association, Bayside, New York
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  • How to Cite this Article: Crane J, Fagerness J, Osiecki L, Gunnell B, Stewart SE, Pauls DL, Scharf JM, the Tourette Syndrome International Consortium for Genetics (TSAICG). 2011. Family-Based Genetic Association Study of DLGAP3 in Tourette Syndrome. Am J Med Genet Part B 156:108–114.

Abstract

Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder that is familial and highly heritable. Although genetic influences are thought to play a significant role in the development of TS, no definite TS susceptibility genes have been identified to date. TS is believed to be genetically related to both obsessive-compulsive disorder (OCD) and grooming disorders (GD) such as trichotillomania (TTM). SAP90/PSD95-associated protein 3 (SAPAP3/DLGAP3) is a post-synaptic scaffolding protein that is highly expressed in glutamatergic synapses in the striatum and has recently been investigated as a candidate gene in both OCD and GD studies. Given the shared familial relationship between TS, OCD and TTM, DLGAP3 was evaluated as a candidate TS susceptibility gene. In a family-based sample of 289 TS trios, 22 common single nucleotide polymorphisms (SNPs) in the DLGAP3 region were analyzed. Nominally significant associations were identified between TS and rs11264126 and two haplotypes containing rs11264126 and rs12141243. Secondary analyses demonstrated that these results cannot be explained by the presence of comorbid OCD or TTM in the sample. Although none of these results remained significant after correction for multiple hypothesis testing, DLGAP3 remains a promising candidate gene for TS. © 2010 Wiley-Liss, Inc.

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