title: No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families.
abstract: Gilles de la Tourette Syndrome (TS) is neuropsychiatric disorder characterized by both motor and vocal tics affecting approximately 1/10,000 females and 1/2000 males. Because of the success of neuroleptics and other agents interacting with the dopaminergic system in the suppression of tics, a defect in the dopamine system has been hypothesized in the etiology of TS. In this paper we test the hypothesis that the dopamine D4 receptor (DRD4) is linked to the genetic susceptibility to TS in five families. We tested three polymorphisms in the DRD4 gene and a polymorphism in the closely linked locus, tyrosine hydroxylase (TH). We found no evidence for linkage of DRD4 or TH to TS using an autosomal dominant model with reduced penetrance or using non-parametric methods. The presence of a mutation that results in a truncated non-functional D4 receptor protein was also tested for, but was not observed in these families.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: C L
authors.initials: CL
authors.lastname: Barr
authors.forename: K G
authors.initials: KG
authors.lastname: Wigg
authors.forename: E
authors.initials: E
authors.lastname: Zovko
authors.forename: P
authors.initials: P
authors.lastname: Sandor
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D002170:Canada; D005091:Exons; D005190:Family; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D011110:Polymorphism, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4; D017384:Sequence Deletion; D005879:Tourette Syndrome / Q000235:genetics* / Q000378:metabolism; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics
chemical_list: C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D050638:Receptors, Dopamine D4; D014446:Tyrosine 3-Monooxygenase