title: 5'-untranslated region of the dopamine D4 receptor gene and attention-deficit hyperactivity disorder.
abstract: Recently the molecular genetic basis of attention-deficit hyperactivity disorder (ADHD) has been the focus of a number of studies with the majority of these investigating the role of dopamine system genes. A great deal of attention has been focused on the possible involvement of the dopamine D4 receptor gene (DRD4) following a report of an association of ADHD with the allele containing seven copies of the 48-bp repeat in the third exon. In this paper we extended the search for the molecular explanation for the observed association by testing three polymorphisms in the region 5' to the dopamine receptor D4 gene transcription start site for linkage to ADHD. We specifically targeted polymorphisms in the region 5' to the start site of transcription as DNA variants in this region could alter the transcription level of the gene and hence the phenotype. We did not observe significant evidence for biased transmission of any of the alleles at these three polymorphisms to ADHD probands using the transmission disequilibrium test. We conclude that these three polymorphisms are not related to the ADHD phenotype.
authors: Department of Psychiatry, The Toronto Western Hospital, Ontario, Canada. cbarr@playfair.utoronto.ca
authors: C L
authors: CL
authors: Barr
authors: Y
authors: Y
authors: Feng
authors: K G
authors: KG
authors: Wigg
authors: R
authors: R
authors: Schachar
authors: R
authors: R
authors: Tannock
authors: W
authors: W
authors: Roberts
authors: M
authors: M
authors: Malone
authors: J L
authors: JL
authors: Kennedy
mesh_terms: D020121:5' Untranslated Regions / Q000737:chemistry; D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D001483:Base Sequence; D002648:Child; D005190:Family; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009679:Nuclear Family; D011110:Polymorphism, Genetic / Q000235:genetics; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4
chemical_list: D020121:5' Untranslated Regions; C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D050638:Receptors, Dopamine D4