Interaction between Estrogen Receptor 1 and the Epsilon 4 Allele of Apolipoprotein E in Korean Schizophrenic Patients / 신경정신의학

OBJECTIVES: Recent studies indicated that estrogen receptor 1 subtype(ESR1) genetic polymorphisms may affect the expression of ESR1, and are associated with Alzheimer's disease. This study was designed to investigate the interaction between ESR1 polymorphism and the epsilon4 allele of apolipoprotein E(ApoE) in Korean schizophrenic patients. METHODS: We studied 46 schizophrenic patients and 40 healthy controls. The ESR1 & ApoE polymorphisms were assessed by PCR-restriction fragment length polymorphism(RFLP) or reverse hybridization. RESULTS: The distribution of the genotype in schizophrenic patients with XX, Xx, xx, PP, Pp, pp were 7(15.2%), 20(43.5%), 19(41.3%), 10(21.7%), 19(41.3%), 17(37%), and the controls were 1(2.5%), 12(30%), 27(67.5%), 7(17.5%), 21(52.5%), and 12(30%). No significant differences for genotype distribution were revealed between controls and schizophrenic patients except Xba I genotype. The genotype frequency of schizophrenia with xx of ESR1 and epsilon4 of ApoE were 58.7%, 6.5% and that of the controls were 58.7%, and 15%, respectively. The ESR1 genotypes and ApoE were not associated with onset age, psychiatric symptoms, familial history, subtype(positive vs negative) of schizophrenic cases. In kappa-square, there is no significant difference between the two groups, and we are with an assum the interaction between the homogenous ESR1 xx genotype and the ApoE epsilon4 allele was not ob-served in schizophrenic patients. CONCLUSION: The ESR1 gene may not appears to interact with the ApoE epsilon4 genotype in determining schizophrenia susceptibility. There was no significant association between schizophrenia and ESR1 & ApoE gene polymorphism. But, Xba I genotype may be closer to schizophrenia than Pvu II genotype.

Apolipoprotein E Genotype in Korean Schizophrenic Patients

The apolipoprotein E (APOE) epsilon4 allele is a known risk factor for the development of Alzheimer's disease, however, an association of the APOE genotype with schizophrenia is controversial. We investigated the association in 60 Korean schizophrenic patients and 60 healthy controls. APOE genotypes were identified by reverse hybridization-based line probe assay. There were significant differences in the distribution of APOE genotypes between schizophrenic patients and controls. APOE epsilon2 and epsilon3 allele frequencies in schizophrenic patients were significantly different from those in controls. Our results suggest that APOE alleles seem to be operative in the pathogenesis of schizophrenic disorders.