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. 2015 May;206(5):431-2.
doi: 10.1192/bjp.bp.114.148973. Epub 2015 Mar 19.

DRD3 gene and striatum in autism spectrum disorder

Wouter G Staal  1 , Marieke Langen  1 , Sarai van Dijk  1 , Vincent T Mensen  1 , Sarah Durston  1
Affiliations

DRD3 gene and striatum in autism spectrum disorder

Wouter G Staal et al. Br J Psychiatry. 2015 May.

Abstract

A single-nucleotide polymorphism (SNP) of the DRD3 gene (rs167771) was recently associated with autism spectrum disorders (ASD). Different polymorphisms of rs167771 corresponded to varying degrees of stereotyped behaviour. As DRD3 receptors are relatively overexpressed in the striatum, we investigated whether striatal volume was related to these polymorphisms in autism. We assessed volumes of caudate nucleus and putamen in 86 participants with ASD (mean age 15.3 years). MANCOVA showed an association between alleles of the rs167771 SNP and the volume of striatal structures. Furthermore, greater caudate nucleus volume correlated with stereotyped behaviour. These findings support a relationship between DRD3 gene SNPs, striatum and stereotyped behaviour in ASD.

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