title: A common variant in DRD3 receptor is associated with autism spectrum disorder.
abstract: BACKGROUND
  The presence of specific and common genetic etiologies for autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) was investigated for 132 candidate genes in a two-stage design-association study.
  
  
  METHODS
  1,536 single nucleotide polymorphisms (SNPs) covering these candidate genes were tested in ASD (n = 144) and ADHD (n = 110) patients and control subjects (n = 404) from The Netherlands. A second stage was performed with those SNPs from Stage I reaching a significance threshold for association of p < .01 in an independent sample of ASD patients (n = 128) and controls (n = 124) from the United Kingdom and a Dutch ADHD (n = 150) and control (n = 149) sample.
  
  
  RESULTS
  No shared association was found between ASD and ADHD. However, in the first and second ASD samples and in a joint statistical analysis, a significant association between SNP rs167771 located in the DRD3 gene was found (joint analysis uncorrected: p = 3.11 x 10(-6); corrected for multiple testing and potential stratification: p = .00162).
  
  
  CONCLUSIONS
  The DRD3 gene is related to stereotyped behavior, liability to side effects of antipsychotic medication, and movement disorders and may therefore have important clinical implications for ASD.
authors.affiliation: Department of Neuroscience and Pharmacology and Department of Child and Adolescent Psychiatry, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, The Netherlands.
authors.forename: Mariken
authors.initials: M
authors.lastname: de Krom
authors.forename: Wouter G
authors.initials: WG
authors.lastname: Staal
authors.forename: Roel A
authors.initials: RA
authors.lastname: Ophoff
authors.forename: Judith
authors.initials: J
authors.lastname: Hendriks
authors.forename: Jan
authors.initials: J
authors.lastname: Buitelaar
authors.forename: Barbara
authors.initials: B
authors.lastname: Franke
authors.forename: Maretha V
authors.initials: MV
authors.lastname: de Jonge
authors.forename: Patrick
authors.initials: P
authors.lastname: Bolton
authors.forename: David
authors.initials: D
authors.lastname: Collier
authors.forename: Sarah
authors.initials: S
authors.lastname: Curran
authors.forename: Herman
authors.initials: H
authors.lastname: van Engeland
authors.forename: Jan M
authors.initials: JM
authors.lastname: van Ree
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D050637:Receptors, Dopamine D3 / Q000235:genetics*
chemical_list: C493593:DRD3 protein, human; D050637:Receptors, Dopamine D3