Systematic mutation analysis of the catechol O-methyltransferase gene as acandidate gene for schizophrenia

Objective: Catechol O-methyltransferase (COMT) is involved in the degradati on of catecholamine neurotransmitters. Recent linkage studies of schizophre nia and molecular studies of velocardiofacial syndrome suggest that the COM T gene might be a candidate gene for schizophrenia. Method: The authors sys tematically searched for mutations and microdeletion of the COMT gene in 17 7 Chinese schizophrenic patients from Taiwan; 99 comparison subjects were a lso studied. Results: Five molecular variants were identified: c.186C>T at exon 3, c.408C>G at exon 4, c.472G>A at exon 4, c.597G>A at exon 5, and c.8 21-827insC at the 3' untranslated region. However, no differences in the ge notype and haplotype frequencies of these molecular variants between the sc hizophrenic and comparison subjects were detected. Furthermore, no microdel etion was identified among the patients. Conclusions: These data suggest th at the COMT gene does not play a major role in the pathogenesis of schizoph renia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort.