Tourette's syndrome and 5HTT: An association study using the HRR strategy

M. C. Cavallini, M. Catalano, D. Di Bella, L. Martucci, L. Bellodi

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Dysregulation in dopaminergic pathways has been hypothesized in Tourette's Syndrome (TS) etiology, but there is evidence that the serotonergic system modulates dopaminergic function in the brain. The involvement of serotonergic pathways could represent an alternative hypothesis for TS etiology. Recently, treatment with SSRIs has been shown to be effective in some TS patients. We performed an association study between a 44-bp deletion/insertion in the promoter region of the serotonin transporter (5HTTLPR) gene and TS in a sample of 37 Italian TS patients (22 males and 15 females), diagnosed according to DSM IV criteria. The short variant conditions a reduction in the transcriptional activity. We did not find any significant association comparing our 37 TS patients with a control group of 95 healthy individuals (χ2 - 0.037 d.f. = 2, P = 0.982 for genotypes; χ2 = 0.00 d.f. = 1, P = 0.983 for alleles). We are performing an association study on the same sample using haplotype relative risk (HRR) strategy: to date we typed 13 nuclear families and preliminary results confirm the case/control results (χ2 = 1.26, d.f. = 1, P = 0.261). No effect of sex and age of onset was found. Our data, even though preliminary, seem to exclude a role of 5HTTLPR in conferring susceptibility to TS.

Original languageEnglish
Pages (from-to)505
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
Publication statusPublished - Nov 6 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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