Associations between the DBH gene, plasma dopamine β-hydroxylase activity and cognitive measures in Han Chinese patients with schizophrenia

Abstract The dopamine (DA) and norepinephrine (NE) systems modulate cognitive function. Dopamine β-hydroxylase (DβH) converts DA to NE, and its activity is under strong genetic control. This study examines the association of plasma DβH (pDβH) activity, DBH gene polymorphisms (− 1021C > T, rs1611115 and 444G > A, rs1108580) and cognitive deficits in Han Chinese patients with schizophrenia. We assessed pDβH activity and cognitive function using the Verbal Fluency Test (VFT), Trail Making Test (TMT) A-B, Stroop color-word test and Wisconsin Card Sorting Test (WCST) in 200 patients with schizophrenia before and after 8 weeks of antipsychotic treatment (96 patients completed assessments at baseline and post-treatment). We found that rs1611115 was significantly associated with pDβH activity, and there was strong LD between rs1611115 and rs1108580 polymorphisms. Correlation analysis indicated that pDβH activity correlated nominally with improvement in VFT score after 8 weeks antipsychotic treatment. Moreover, there was a significant genotype effect of the rs1108580 on VFT: the VFT score of patients with AA genotype was higher than that of patients with AG/GG genotype either at baseline or the end of 8 weeks after treatment. However, this difference was not observed for rs1611115. Our findings confirm a strong association between genotype at rs1611115 and pDβH activity in Chinese patients with schizophrenia. Our data also suggest the rs1108580 polymorphism may influence some aspects of cognitive function in schizophrenia.