Linkage analysis of Tourette syndrome in a large Utah pedigree

Stacey Knight, Hilary Coon, Michael Johnson, Mark F. Leppert, Nicola J. Camp, William M. McMahon, D. Cath, P. Heutink, M. Grados, H. S. Singer, J. T. Walkup, C. Illmann, S. Santangelo, S. E. Stewart, J. Scharf, D. L. Pauls, N. J. Cox, S. Service, D. Keen-Kim, C. SabattiN. 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, G. Gericke, R. Kurlan, P. Como, D. Palumbo, A. Verkerk, B. A. Oostra, W. McMahon, M. Leppert, C. A. Mathews, P. Sandor, C. L. Barr

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple motor and phonic tics. The heritability of TS has been well established, yet there is a lack of consensus in genome-wide linkage studies. The purpose of this study was to conduct a genome-wide linkage analysis on a unique, large, highrisk TS Utah pedigree. We examined a qualitative trait (TS1) where cases had a definitive diagnosis of TS as observed by a clinical interviewer (n=66) and a quantitative phenotype based on the total Yale global motor and phonic tic severity scores (n=102). Both parametric and non-parametric multipoint linkage analyses based on MCMC methods were performed using a 10 cM spaced micro-satellite autosomal marker set. Two regions of interest were identified under affecteds-only recessive models; a LOD score of 3.3 on chromosome 1p for Yale tic severity and a LOD score of 3.1 on chromosome 3p for the TS1 phenotype. Twenty-seven individuals shared linked segregating haplotypes for the 1p region. They had significantly higher Yale tic phonic scores than non-sharers (P=0.01). There were 46 haplotype sharers on chromosome 3p with significantly higher percentage of females among these individuals compared to the non-sharers (P=0.03). The significant linkage peaks on chromosomes 1p and 3p are in new areas of the genome for TS, and replication of these findings is necessary.

Original languageEnglish (US)
Pages (from-to)656-662
Number of pages7
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number2
StatePublished - Mar 1 2010


  • Linkage analysis
  • Tourette syndrome
  • Yale Global Tic Severity Scale

ASJC Scopus subject areas

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


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