title: Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate.
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.
authors.affiliation: Research Department of Genetics, Evolution and Environment, University College London.
authors.forename: Ibi
authors.initials: I
authors.lastname: Herzberg
authors.forename: Ana Victoria
authors.initials: AV
authors.lastname: Valencia-Duarte
authors.forename: Victoria A
authors.initials: VA
authors.lastname: Kay
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: White
authors.forename: Heike
authors.initials: H
authors.lastname: Müller
authors.forename: Isabel C
authors.initials: IC
authors.lastname: Rivas
authors.forename: Sandra Catalina
authors.initials: SC
authors.lastname: Mesa
authors.forename: Mauricio
authors.initials: M
authors.lastname: Cuartas
authors.forename: Jharley
authors.initials: J
authors.lastname: García
authors.forename: Gabriel
authors.initials: G
authors.lastname: Bedoya
authors.forename: William
authors.initials: W
authors.lastname: Cornejo
authors.forename: Andrés
authors.initials: A
authors.lastname: Ruiz-Linares
authors.forename: Barbara
authors.initials: B
authors.lastname: Kremeyer
mesh_terms: D002648:Child; D005190:Family; D005260:Female; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D013020:South America; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D017448:Receptors, Dopamine D2