title: Sequence variants of the DRD4 gene in autism: further evidence that rare DRD4 7R haplotypes are ADHD specific.
abstract: A high prevalence of rare dopamine receptor D4 (DRD4) alleles in children diagnosed with attention-deficit hyperactivity disorder (ADHD) has been reported [Grady et al., 2003]. In this prior study, extensive resequencing/haplotype data of the DRD4 locus was used to suggest that population stratification was not the explanation for the high prevalence of rare alleles. In the current study, DNA resequencing/haplotyping was conducted on 136 DRD4 alleles obtained from autism probands, collected from the same geographic population as the prior ADHD probands (Orange County, CA). A number of studies have suggested that the susceptibility genes underlying these two disorders might partially overlap. Rare DRD4 variants were not uncovered in this autism sample beyond that expected by chance. These results suggest strongly that the high prevalence of rare DRD4 alleles in ADHD probands is due to ascertainment of the sample by diagnosis of ADHD.
authors.affiliation: Department of Biological Chemistry, College of Medicine, University of California at Irvine, 92697, USA. dgrady@uci.edu
authors.forename: D L
authors.initials: DL
authors.lastname: Grady
authors.forename: A
authors.initials: A
authors.lastname: Harxhi
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: P
authors.initials: P
authors.lastname: Flodman
authors.forename: M A
authors.initials: MA
authors.lastname: Spence
authors.forename: J M
authors.initials: JM
authors.lastname: Swanson
authors.forename: R K
authors.initials: RK
authors.lastname: Moyzis
mesh_terms: D000483:Alleles; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D002460:Cell Line; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics; D009154:Mutation; D011110:Polymorphism, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4
chemical_list: C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D050638:Receptors, Dopamine D4