<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>We investigated possible relationships between DNA polymorphisms in the serotonin 2C receptor (<it>HTR2C</it>), the serotonin 3A receptor (<it>HTR3A</it>), the dopamine D<sub>4 </sub>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).</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p>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
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