-1438A/G Polymorphism of the 5-HT2A Receptor Gene in Korean and Han Chinese Patients with Schizophrenia / 신경정신의학

OBJECTIVES: The purpose of the present study was to investigate the association between -1438A/G polymorphism of 5-HT2A receptor gene and schizophrenia in Korean and Han Chinese population. METHODS: A sample of 184 Korean patients with schizophrenia and 96 Korean healthy normal controls and 96 Han Chinese patients with schizophrenia and 96 Han-Chinese healthy normal controls were genotyped for a single nucleotide polymorphism with in 5-HT2A receptor gene (promoter region, A-1438G) by Msp I Restriction Fragment Length Polymorphism (RFLP). RESULTS: There was no difference in allelic frequencies and genotype frequencies of -1438A/G polymorphism between Korean schizophrenics and controls (p=0.13) and Han Chinese schizophrenics and controls (p=0.40). Also, -1438A/G polymorphism did not show ethnical difference between Korean and Han Chinese controls. The Scale for the Assessment of Negative Symptoms (SANS) scores showed no significant differences between genotypes of -1438A/G polymorphism in both of Korean and Han Chinese schizophrenics. CONCLUSION: These results suggest that -1438A/G polymorphism of the 5-HT2A receptor gene is not causally related to the development of schizophrenia in Korean and Han Chinese population, and there no ethnic difference between Korean and Han Chinese population.

-1438A/G Polymorphism of the 5-HT2A Receptor Gene in Korean and Han Chinese Patients with Schizophrenia / 신경정신의학

OBJECTIVES: The purpose of the present study was to investigate the association between -1438A/G polymorphism of 5-HT2A receptor gene and schizophrenia in Korean and Han Chinese population. METHODS: A sample of 184 Korean patients with schizophrenia and 96 Korean healthy normal controls and 96 Han Chinese patients with schizophrenia and 96 Han-Chinese healthy normal controls were genotyped for a single nucleotide polymorphism with in 5-HT2A receptor gene (promoter region, A-1438G) by Msp I Restriction Fragment Length Polymorphism (RFLP). RESULTS: There was no difference in allelic frequencies and genotype frequencies of -1438A/G polymorphism between Korean schizophrenics and controls (p=0.13) and Han Chinese schizophrenics and controls (p=0.40). Also, -1438A/G polymorphism did not show ethnical difference between Korean and Han Chinese controls. The Scale for the Assessment of Negative Symptoms (SANS) scores showed no significant differences between genotypes of -1438A/G polymorphism in both of Korean and Han Chinese schizophrenics. CONCLUSION: These results suggest that -1438A/G polymorphism of the 5-HT2A receptor gene is not causally related to the development of schizophrenia in Korean and Han Chinese population, and there no ethnic difference between Korean and Han Chinese population.

Association between A-1438G Polymorphisms of 5-HT2A Receptor Promoter Gene and Tardive Dyskinesia / 대한정신약물학회지

OBJECTIVE: Tardive dyskinesia (TD) is one of the serious side effects caused by long-term treatment with neuroleptic medication. Many investigators are trying to elucidate the pathophysiological mechanism of TD, and some candidate genetic polymorphisms have been reported as associated with TD. This study investigated the association of the 5-HT2A receptor promoter gene polymorphisms with TD in Korean schizophrenic subjects. METHODS: The subjects in this study of 5-HT2A receptor gene polymorphisms were 119 schizophrenia patients, 59 with TD and 60 without. TD was evaluated by using the Abnormal Involuntary Movement Scale (AIMS). Genomic DNA was amplified by PCR and digested with MspI. RESULTS: There were no statistically significant differences in the demographic variables of age, sex ratio, duration of illness and duration of antipsychotic drug exposure between the TD and control groups. 1) A-1438G polymorphisms and TD, By comparing the TD and control groups, the -1438A/G allele was found to be associated with a significantly increased risk for TD (x2=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and A-1438G genotype. There were statistically significant differences in the three AIMS categories (x2=6.835, df=2, p=0.033). CONCLUSION: These results suggest that the -1438A/G genotype of the 5-HT2A receptor gene is related to the development of TD. The -1438A/G genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-HT2A receptor gene is partly associated with susceptibility to TD in patients with chronic schizophrenia.

Association between Tardive Dyskinesia and T103C Polymorphisms of 5-HT2A Receptor Gene

OBJECTIVE: Some candidate gene polymorphisms were reported to be associated with tardive dyskinesia (TD). The aim of this study was to investigate the association of the 5-HT2A receptor gene polymorphisms with TD in Korean schizophrenic subjects. METHOD: Subjects were of 59 schizophrenic patients with TD and 60 schizophrenic patients without TD for studying of 5-HT2A receptor gene polymorphisms. TD was evaluated using the Abnormal Involuntary Movement Scale(AIMS). Genomic DNA was amplified by PCR and digestion with MspI and BsmI. RESULT: There were no statistically significant differences in the demographic variables, such as age, male to female percentage, duration of illnesses and duration of antipsychotic drug exposure between the TD group and control group. 1) T102C polymorphisms and TD Comparing the TD group and control group, the 102T/C allele was associated with a significantly increased risk for TD (chi2=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and T102C genotype. There were statistically significant differences in the three AIMS categories(chi2=6.835, df=2, p=0.033). CONCLUSION: These result suggest 102T/C genotypes of the 5-HT2A receptor gene are related to the development of TD. The 102T/C genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-HT2A receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia.

No Association Between the 5-HT 2A Receptor Gene Promoter Polymorphism(-1438A/G) and Schizophrenia in a Korean Population / 신경정신의학

OBJECTIVES: This study was designed to investigate the association between 5-HT 2A receptor gene promoter -1438A/G polymorphism and schizophrenia in a Korean population. METHOD: 5-HT 2A receptor gene promoter -1438A/G polymorphism was typed with Polymerase Chain Reaction in 132 patients with schizophrenia and 138 healthy normal controls. RESULT: There was no difference in allelic frequency of -1438A/G polymorphism between patients with schizophrenia and controls(K 2=2.261, df=1, p=0.133). A difference was found in genotype distribution(K 2=6.157, df=2, p=0.046), but this difference was being given by the increased A/A in th controls and A/G in the patients. The genotype frequency, which is the sum of homozygosity and heterozygosity for the -1438 G allele, was significantly higher in the patients(K 2=5.880, df=1, p=0.015). However, there was no difference between the patients with schizophrenia and conrols in the frequency of homozygosity for the -1438 G allele. CONCLULSION: These results suggest that -1438A/G polymorphism of the 5-HT 2A receptor gene promoter is not causally related to the development of schizophrenia in a Korean population.

Association between 5-HT2A Receptor Gene Promoter -1438A/G Polymorphism and Bipolar Disorder in a Korean Population / 신경정신의학

OBJECTIVES: This study was designed to investigate the association between 5-HT 2A receptor gene promoter -1438A/G polymorphism and bipolar disorder in a Korean population. METHOD: 5-HT2A receptor gene promoter -1438A/G polymorphism were typed with Polymerase Chain Reaction in 120 patients with bipolar disorder and 120 normal controls. RESULT: The distributions of the genotype in the bipolar disorder with A/A, A/G, G/G were 14 (12%), 66(55%), 40(33%), and in the controls were 30(25%), 59(49%), and 31(26%). The allele frequencies of the bipolar disorders with A and G were 94(39.2%), 146(60.8%), and in the controls were 119(49.6), and 121(50.4), respectively. There were significant differences in genotype distributions and allele frequencies of -1438A/G between patients with bipolar disorder and normal controls. CONCLUSION: These results suggest that 5-HT2A receptor gene promoter -1438A/G polymorphism may be related to the development of bipolar disorder in a Korean population.

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.