A Null Mutation of the Ciliary Neurotrophic Factor (CNTF) Gene Associated Neither with Schizophrenia Nor with Bipolar Disorder in a Korean Population / 신경정신의학

Genetic factors play an important role in the development of schizophrenia and bipolar disorder, and recently the neural maldevelopment hypothesis is suggested by neuropathological and neuroimaging studies. Neurotrophic factors, including ciliary neurotrophic factor (CNTF), play a central role in the regulation of neural development. This study was designed to investigate the association between the null mutation of CNTF gene and schizophrenia and bipolar disorder in a Korean population. The CNTF gene were typed with polymerase chain reaction in 112 patients with schizophrenia, 81 with bipolar disorders and in 125 healthy controls. The distributions of the CNTF genotype in schizophrenic patients with N/N, N/M, M/M were 80 (71.4%), 32 (28.6%), 0 (0%), in bipolar disorders were 58 (71.6%), 23 (28.4%), 0 (0%) and in the controls were 94 (75.2%), 30 (24.0%), 1 (0.8%). The allele frequencies of the CNTF gene in schizophrenic patients with N and M were 192 (85.7%), 32 (14.3%), in bipolar disorders were 139 (85.8%), 23 (14.2%), and in the control were 218 (87.2%), 32 (12.8%). There were no differences in the genotype distributions and the allele frequencies of CNTF gene null mutation among the 3 groups. These results suggest CNTF gene null mutation is not causally related to the development of schizophrenia and bipolar disorder in Korea.

No Association between 102T/C and 452His/Tyr Polymorphisms of 5-HT2A Receptor Gene and Schizophrenia in Korean Population / 신경정신의학

OBJECTIVES: This study was designed to investigate the association between the silent mutation, 102T/C and the substitution of histidine by tyrosine at position 452, 452His/Tyr polymorphism of the 5HT2A receptor gene and schizophrenia in korean population. METHOD: 102T/C and 452His/Tyr polymorphism of the 5-HT2A receptor gene was typed with PCR in 93 patients with schizophrenia and 93 healthy controls. RESULTS: 1) Genotype of 102T/T, 102T/C, 102C/C were 37(40%), 34(36%), and 22(24%), res-pectively in the patients with schizophrenia. Genotype of 102T/T, 102T/C, 102C/C were 31(33%), 41(44%), and 21(23%), respectively in the controls, Allele frequencies of 102T in the patients with schizophrena was 0.58 and that in the controls was 0.55. Allele frequencies of 102C in the patients with schizophrena was 0.42 and that in controls was 0.45. There were no differencies in genotype and allele frequency of 102T/C between the patients with schizophrenia and the controls. 2) 452His/Tyr polymorphism of the 5-HT2A receptor gene was not founeded in the patients with schizophrenia and in the controls. CONCLUSION: These results suggest 102T/C and 452His/Tyr polymorphisms of the 5-HT2A receptor gene are not causally related to the development of schizophrenia in Korean population.