Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate

Ibi Herzberg, Ana Victoria Valencia-Duarte, Victoria A. Kay, Daniel J. White, Heike Müller, Isabel C. Rivas, Sandra Catalina Mesa, Mauricio Cuartas, Jharley García, Gabriel Bedoya, William Cornejo, Andrés Ruiz-Linares, Barbara Kremeyer

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by motor and vocal tics. Epidemiological evidence supports the importance of genetic factors in disease susceptibility, whereas pharmacological and neuroimaging studies have suggested a defect in the dopamine system. The dopamine receptor D2 gene (DRD2) has been reported to be associated with GTS and related phenotypes. Here, we evaluate genetic association between DRD2 and GTS in a sample from a South American population isolate (Antioquia, Colombia). We genotyped nine single nucleotide polymorphisms (SNPs) across the DRD2 gene region in 69 GTS patients and their nuclear families and carried out both SNP and haplotype-based transmission distortion analysis. Evidence for association was found for three SNPs (rs6279, rs1079597 and rs4648318) and a five marker-haplotype comprising both rs6279 and rs1079597. Our findings replicate the association of DRD2 and GTS, and are consistent with the proposed connection between the dopamine system and this complex neuropsychiatric disease.

Original languageEnglish
Pages (from-to)179-183
Number of pages5
JournalPsychiatric Genetics
Volume20
Issue number4
DOIs
Publication statusPublished - 1 Aug 2010
Externally publishedYes

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