Family-based genetic association study of DLGAP3 in Tourette Syndrome

Jacquelyn Crane, Jesen Fagerness, Lisa Osiecki, Boyd Gunnell, S. Evelyn Stewart, David L. Pauls, Jeremiah M. Scharf*, D. Cath, P. Heutink, M. Grados, H. S. Singer, J. T. Walkup, Scharf J.M. Scharf, C. Illmann, D. Yu, J. Platko, S. Santangelo, S. E. Stewart, D. L. Pauls, N. J. CoxS. Service, D. Keen-Kim, C. Sabatti, N. Freimer, M. M. Robertson, G. A. Rouleau, J. B. Riviere, S. Chouinard, F. Richer, P. Lesperance, Y. Dion, R. A. King, J. R. Kidd, A. J. Pakstis, J. F. Leckman, K. K. Kidd, R. Kurlan, P. Como, D. Palumbo, A. Verkerk, B. A. Oostra, W. McMahon, M. Leppert, H. Coon, C. Mathews, P. Sandor, C. L. Barr

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)108-114
Number of pages7
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number1
StatePublished - Jan 1 2011


  • Gene
  • Glutamate
  • SAPAP3
  • Tic disorders
  • Trichotillomania

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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