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DRD3 gene and striatum in autism spectrum disorder

机译:自闭症谱系障碍中的DRD3基因和纹状体

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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.
机译:DRD3基因(rs167771)的单核苷酸多态性(SNP)最近与自闭症谱系障碍(ASD)相关。 rs167771的不同多态性对应于不同程度的刻板行为。由于DRD3受体在纹状体中相对过表达,因此我们调查了自闭症患者的纹状体体积是否与这些多态性有关。我们评估了86名ASD患者(平均年龄15.3岁)的尾状核和壳核的数量。 MANCOVA显示rs167771 SNP等位基因与纹状体结构体积之间存在关联。此外,较大的尾状核体积与定型行为有关。这些发现支持DRD3基因SNP,纹状体和ASD中的刻板行为之间的关系。

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