title: No association found between 158 Val/Met polymorphism of the COMT gene and schizophrenia with minor physical anomalies.
abstract: The catechol-O-methyl transferase (COMT) gene has been a promising candidate in genetic research on schizophrenia because of its function in dopamine metabolism and its location on chromosome 22q11.2, which may be implicated in both schizophrenia and velocardiofacial syndrome (VCFS). To explore the possible genetic contribution of COMT to the development of schizophrenia, we focused on the subgroup of patients with schizophrenia characterized by minor physical anomalies as a phenotype and the 158 Val/Met polymorphism as a genotype. Since some physical anomalies are found in both schizophrenia and VCFS, schizophrenia patients with minor physical anomalies could represent the putative subgroup of schizophrenia linked to a disruption in neurodevelopment. Genotyping for the 158 Val/Met (472 G>A) polymorphism in the COMT gene was done for 239 patients with schizophrenia and 248 normal controls. Our analysis did not yield any significant between-group differences in terms of either allele or genotype frequency. We also could not find any association between the COMT gene and the schizophrenia subgroup with minor physical anomalies, although there was a significant difference in Waldrop total scores between the patients with schizophrenia and the normal controls. Analyses of subgroups based on other clinical variables also did not reveal significant differences. Overall, this study does not support the hypothesis that the 158 Val/Met polymorphism in the COMT gene is associated with schizophrenia in Koreans.
authors.affiliation: Department of Psychiatry, Eulji University School of Medicine, Daegeon, South Korea.
authors.forename: Eun-Jeong
authors.initials: EJ
authors.lastname: Joo
authors.forename: Seong-Hoon
authors.initials: SH
authors.lastname: Jeong
authors.forename: Yong-Min
authors.initials: YM
authors.lastname: Ahn
authors.forename: Kyu-Young
authors.initials: KY
authors.lastname: Lee
authors.forename: Se
authors.initials: S
authors.lastname: Chang Yoon
authors.forename: Eui-Joong
authors.initials: EJ
authors.lastname: Kim
authors.forename: Seon-Uk
authors.initials: SU
authors.lastname: Kim
authors.forename: Soo-Churl
authors.initials: SC
authors.lastname: Cho
authors.forename: Yong
authors.initials: Y
authors.lastname: Sik Kim
mesh_terms: D000328:Adult; D000483:Alleles; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D000013:Congenital Abnormalities / Q000453:epidemiology; D005260:Female; D015870:Gene Expression / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006304:Health Status; D006801:Humans; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D002394:Catechol O-Methyltransferase