Original article

Korean Journal of Schizophrenia Research 2008;11(2):141-146.

한국 정신분열병 환자에서 G-Protein β3 Subunit Gene(GNB3)의 C825T 유전자 다형성

Byung-Eun An, MD1, Sun-Woo Lee, MD2, Seong-Keun Wang, MD2 and Eui-Jun Kim, MD3

Abstract

Object: Heterotrimeric G-proteins play a pivotal role in the intracellular transduction of many transmitter-receptor interactions. Alterations in signal transduction and G-protein concentrations have been reported in affective disorder and other psychiatric disorders. A single-nucleotide polymorphism (C825T) in the G-protein β3 subunit gene has been reported to be associated with an increased intracellular signal transduction. This study aimed to investigate the association between polymorphsims of GNB3/C825T and schizophrenia. Method: 99 patients with schizophrenia and 90 controls enrolled in the study. A polymerase chain reaction (PCR) with restriction fragment length enzyme (RFLP) was used to genotype the C825T polymorphisms.
Results:The results were as follows: 1) In schizophrenic patients, genotype distributions of the GNB3/C825T polymorphism were CC 19 (19.2%), CT 60 (60.6%) and TT 20 (20.2%), and allele frequencies were C 98 (49.5%), and T 100 (50.5%). In normal control, genotype distributions of the GNB3/C825T polymorphism were CC 22 (24.4%), CT 38 (42.2%) and TT 30 (33.3%), and allele frequencies were C 82 (45.6%), and T 98 (54.4%). There were significant differences in the genotype frequencies of the GNB3/C825T polymorphisms between the schizophrenic patients and the controls, while no significant differences in the alleic frequencies were found. 2) There were no difference in genotype distribution and allele frequencies of the GNB3/C825T polymorphism, when patients were categorized by sex, family history of psychiatric disease, severity of symptom with PANSS scale.
Conclusion:These results suggest that GNB3/C825T polymorphism is related to the pathogenesis of schizophrenia in the Korean population. Further study of GNB3/C825T polymorphism should be needed, including family based association study and other clinical variations of schizophrenia. (Korean J Schizophr Res 2008;11:141-146)

Key Words: Schizophrenia,GTP-binding protein beta subunit,Polymorphism