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Association of dopamine gene variants, emotion dysregulation and ADHD in autism spectrum disorder.


ABSTRACT: The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD). Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs27072 in the 3'-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on à priori evidence of regulatory activity or, in the case of DAT1 9/10 VNTR, commonly reported associations with ADHD. A sample of 110 children with ASD was assessed with a rigorously validated DSM-IV-referenced rating scale. Global EMD severity (parents' ratings) was associated with DAT1 intron8 (?p(2)=.063) and rs2283265 (?p(2)=.044). Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (?p(2)=.065) and depression (?p(2)=.059), and for DRD2 rs2283265, depression (?p(2)=.053). DRD2 rs2283265 was associated with teachers' global ratings of ADHD (?p(2)=.052). DAT1 intron8 was associated with parent-rated hyperactivity (?p(2)=.045) and both DAT1 9/10 VNTR (?p(2)=.105) and DRD2 rs2283265 (?p(2)=.069) were associated with teacher-rated inattention. These findings suggest that dopaminergic gene polymorphisms may modulate EMD and ADHD symptoms in children with ASD but require replication with larger independent samples.

SUBMITTER: Gadow KD 

PROVIDER: S-EPMC4084560 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature

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Association of dopamine gene variants, emotion dysregulation and ADHD in autism spectrum disorder.

Gadow Kenneth D KD   Pinsonneault Julia K JK   Perlman Greg G   Sadee Wolfgang W  

Research in developmental disabilities 20140426 7


The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD). Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs27072 in the 3'-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on à priori evidence of regulatory activity or, in  ...[more]

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