Dopaminergic polymorphisms in Tourette syndrome: Association with the DAT gene (SLC6A3)

DY Yoon, CA Rippel, AJ Kobets, CM Morris, J Lee, PN Williams, DD Bridges, DJ Vandenbergh, Y Yao Shugart, HS Singer

    Research output: Contribution to journalArticle (Academic Journal)peer-review

    59 Citations (Scopus)


    Tourette syndrome (TS) is a chronic neuropsychiatric disorder characterized by involuntary motor and phonic tics. The pattern of inheritance and associated genetic abnormality has yet to be fully characterized. A dopaminergic abnormality in this disorder is supported by response to specific therapies, nuclear imaging, and postmortem studies. In this protocol, dopaminergic polymorphisms were examined for associations with TS and attention-deficit hyperactivity disorder (ADHD). Polymorphisms investigated included the dopamine transporter (DAT1 DdeI and DAT1 VNTR), dopamine receptor (D4 Upstream Repeat and D4 VNTR), dopamine converting enzyme (dopamine -hydroxylase), and the acid phosphatase locus 1 (ACP1) gene. DNA was obtained from 266 TS individuals ± ADHD and 236 controls that were ethnicity-matched. A significant association, using a genotype-based association analysis, was identified for the TS-total and TS-only versus control groups for the DAT1 DdeI polymorphism (AG vs. AA, P = 0.004 and P = 0.01, respectively). Population structure, estimated by the genotyping of 27 informative SNP markers, identified 3 subgroups. A statistical re-evaluation of the DAT1 DdeI polymorphism following population stratification confirmed the association for the TS-total and TS-only groups, but the degree of significance was reduced (P = 0.017 and P = 0.016, respectively). This study has identified a significant association between the presence of TS and a DAT polymorphism. Since abnormalities of the dopamine transporter have been hypothesized in the pathophysiology of TS, it is possible that this could be a functional allele associated with clinical expression.
    Translated title of the contributionDopaminergic polymorphisms in Tourette syndrome: Association with the DAT gene (SLC6A3)
    Original languageEnglish
    Pages (from-to)605 - 610
    Number of pages6
    JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
    Volume144B (5)
    Publication statusPublished - Jul 2007

    Bibliographical note

    Publisher: Wiley


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