RESUMO
OBJECTIVES: Family, twin and adoption studies indicate that genetic factors play a crucial role in the etiology of schizophrenia. However, mode of inheritance of schizophrenia is uncertain, and genes for schizophrenia have not yet been identified despite extensive studies due to the complexity of the genetics of schizophrenia. Currently, 5HT2A receptor gene has attracted considerable interest as a susceptibility gene of schizoph,enia since the 5HT2A receptor has been known as one of the major target sites of atypical neuroleptics. We conducted an association study of T102C polymorphism in the 5HT2a receptor gene in Korean schizophrenic patients using PCR-RFLF method. METHODS: Two hundered and fifty biologically unrelated schizoprenic patients meeting DSM-III-R criteria from Kangnam St. Mary's Hospital affiliated with Catholic University of Korea were recruited for our study. The patient group consisted of 123 male and 127 female subjects, aged 30.1+/-9.3years. The controls were volunteers for DNA library of Kangnam St. Mary's Hospital withoyt family history of psychiatric or neurologic illness. The control group consisted of 124 males and 112 females, aged 23.6+/-3.7year. Amplified genomic DNA was digested by MspI. The significance of genetic association of the polymorphism was estimated by the logisitc regression anlysis and ANOVA using SPSS 7.5. RESULT: The allele frequencies and the genotypic distribution 5HT2a receptor gene were not significantly different between the patient and control group. In addition the allele frequencies and the genotypes of 5HT2a receptor gene were not significantly associated with subtype of schizophrenia. However, negative symptom score according to genotype show significant differenence(F=3.828 df=2 P=0.023). CONCLUSION: It is suggested that even if the development and subtype of schizophrenia may not beassociated with T102C polymorphism of 5HT2A receptor in Korean population, T102C polymorphism may be associated with the severity of negative symptom.