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Abstract Background Concentrations of monoamine metabolites in human cerebrospinal fluid (CSF) have been used extensively as indirect estimates of monoamine turnover in the brain. CSF monoamine metabolite concentrations are partly determined by genetic influences. Methods We investigated possible relationships between DNA polymorphisms in the serotonin 2C receptor (<it>HTR2C</it>), the serotonin 3A receptor (<it>HTR3A</it>), the dopamine D4 receptor (<it>DRD4</it>), and the dopamine β-hydroxylase (<it>DBH</it>) genes and CSF concentrations of 5-hydroxyindolacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) in healthy volunteers (n = 90). Results The <it>HTR3A </it>178 C/T variant was associated with 5-HIAA levels (p = 0.02). The <it>DBH</it>-1021 heterozygote genotype was associated with 5-HIAA (p = 0.0005) and HVA (p = 0.009) concentrations. Neither the <it>HTR2C </it>Cys23Ser variant, nor the <it>DRD4 </it>-521 C/T variant were significantly associated with any of the monoamine metabolites. Conclusions The present results suggest that the <it>HTR3A </it>and <it>DBH </it>genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.</p

Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers