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. 2009 Apr 1;65(7):625-30.
doi: 10.1016/j.biopsych.2008.09.035. Epub 2008 Dec 5.

A common variant in DRD3 receptor is associated with autism spectrum disorder

Mariken de Krom  1 , Wouter G Staal, Roel A Ophoff, Judith Hendriks, Jan Buitelaar, Barbara Franke, Maretha V de Jonge, Patrick Bolton, David Collier, Sarah Curran, Herman van Engeland, Jan M van Ree
Affiliations

A common variant in DRD3 receptor is associated with autism spectrum disorder

Mariken de Krom et al. Biol Psychiatry. .

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.

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