A promoter polymorphism in the monoamine oxidase A gene and its relationships to monoamine metabolite concentrations in CSF of healthy volunteers.

Concentrations of monoamine metabolites (MM) in lumbar cerebrospinal fluid (CSF) have been used extensively as indirect estimates of monoamine turnover in the brain. We investigated possible relationships between a putative functional promoter polymorphism in the monoamine oxidase A (MAOA) gene and CSF concentrations of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) in healthy volunteers (n=88). Among women (n=37), those carrying at least one copy of the alleles associated with more efficient transcription displayed higher concentrations of HVA (p=0.01) and 5-HIAA (p=0.01). In men (n=51), however, there was a tendency in the opposite direction. The results suggest that MAOA genotypes may participate differentially in the regulation of dopamine and serotonin turnover rates under presumed steady state in the central nervous system. The results should be interpreted with caution until replicated because of the limited sample size.