| Summary: | <p>Abstract</p> <p>Background</p> <p>Monoamine oxidases (MAOs) catalyze the metabolism of dopaminergic neurotransmitters. Polymorphisms of isoforms MAOA and MAOB have been implicated in the etiology of mental disorders such as schizophrenia. Association studies detected these polymorphisms in several populations, however the data have not been conclusive to date. Here, we investigated the association of <it>MAOA </it>and <it>MAOB </it>polymorphisms with schizophrenia in a Han Chinese population.</p> <p>Methods</p> <p>Two functional single nucleotide polymorphisms (SNPs), rs6323 of <it>MAOA </it>and rs1799836 of <it>MAOB</it>, were selected for association analysis in 537 unrelated schizophrenia patients and 536 healthy controls. Single-locus and Haplotype associations were calculated.</p> <p>Results</p> <p>No differences were found in the allelic distribution of rs6323. The G allele of rs1799836 was identified as a risk factor in the development of schizophrenia (<it>P </it>= 0.00001). The risk haplotype rs6323T-rs1799836G was associated with schizophrenia in female patients (<it>P </it>= 0.0002), but the frequency difference was not significant among male groups.</p> <p>Conclusions</p> <p>Our results suggest that <it>MAOB </it>is a susceptibility gene for schizophrenia. In contrast, no significant associations were observed for the <it>MAOA </it>functional polymorphism with schizophrenia in Han Chinese. These data support further investigation of the role of MAO genes in schizophrenia.</p>
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