Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate.
- Authors
- Herzberg, Ibi; Valencia-Duarte, Ana Victoria; Kay, Victoria A; White, Daniel J; Müller, Heike; Rivas, Isabel C; Mesa, Sandra Catalina; Cuartas, Mauricio; García, Jharley; Bedoya, Gabriel; Cornejo, William; Ruiz-Linares, Andrés; Kremeyer, Barbara
- Year
- 2010
- Journal
- Psychiatric genetics
- PMID
- 20431429
- DOI
- 10.1097/YPG.0b013e32833a215a
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.
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External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Genetics of Tourette Syndrome. | Fernandez TV | — | 2025 | → |
| Role of histidine decarboxylase gene in the pathogenesis of Tourette syndrome. | Xu L et al. | — | 2022 | → |
| Elevated Expression of <i>SLC6A4</i> Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome. | Hildonen M et al. | — | 2021 | → |
| Altered dopaminergic regulation of the dorsal striatum is able to induce tic-like movements in juvenile rats. | Nespoli E et al. | — | 2018 | → |
| Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. | Abdulkadir M et al. | — | 2018 | → |
| From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research. | Pagliaroli L et al. | — | 2016 | → |
| [mRNA expression of dopamine receptor D2 and dopamine transporter in peripheral blood lymphocytes before and after treatment in children with tic disorder]. | Ji XY et al. | — | 2016 | → |
| The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. | Georgitsi M et al. | — | 2016 | → |
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