Abstract

The cognitive deficits observed in attention deficit/hyperactivity disorder (ADHD) are candidate endophenotypes for genetic association studies. Dopamine β-hydroxylase (DβH) converts dopamine to norepinephrine, and its activity is under strong genetic control. Prior studies suggest association between ADHD and DBH gene. The present study examined associations between a putative functional single nucleotide polymorphism (SNP) at DBH with performance on the Stroop task in patients with ADHD and in healthy control subjects. A total of 812 Han Chinese youths with DSM-IV ADHD and 233 unaffected controls were included in the study. Comprehensive phenotype data were collected, including performance on a series of Stroop interference tests examining inhibition of response to interfering stimuli. DBH SNP -1021C/T was genotyped using the 5'-exonuclease (TaqMan®) method. Compared to unaffected controls, children with ADHD performed significantly worse in all categories of the Stroop test. In ADHD cases, DBH genotype at -1021C/T significantly associates with reaction times of incongruent color word parts but not the interference times, with TT genotype performing significantly better in both reaction time and interference time than other two genotype groups. DBH genotype did not associate with cognitive performance in unaffected controls or in the combined group. DBH genotype at -1021C/T associates with differences in performance on the Stroop task in children with ADHD.

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