Original article

Korean Journal of Schizophrenia Research 2006;9(1):11-14.

한국인에서 DTNBP1(Dysbindin) 유전자와 정신분열병의 관련

Chi Un Pae, MD1, Jung Jin Kim, MD1, Tae Suk Kim, MD1, Chul Lee, MD1, In Ho Paik, MD1 and Tae Youn Jun, MD2

Abstract

Objectives:Dysbindin (dystrobrevin-binding-protein 1, DTNBP1) gene has been focused due to its possible effect on etiologic mechanism on schizophrenia. Recently, genetic variants of dysbindin gene were investigated in schizophrenia with results of significant association. This study was aimed to examine the association of genetic variants of dysbindin gene with schizophrenia in Korean population.
Methods:Four hundred and seventy four patients with schizophrenia and 478 controls were recruited. Four SNPs of dysbindin gene were examined by pyrosequencing. Haploview 3.2 was used to generate a linkage disequilibrium (LD) map and to test for Hardy- Weinberg (H-W) equilibrium. Tests for associations of multi-marker haplotypes were performed using COCAPHASE v2.403.
Results:Genotypes of all markers were in H-W equilibrium in both patients with schizophrenia and controls. Haplotype analysis revealed a significant association (LRS=48.181, df=11, p=0.000001). Haplotypes 1-1-1-2 and 1-1-2-1 having the strongest protective effect. Major contribution was due to the rs760761 (C/T) and rs2619522 (A/C) haplotypes (LRS=39.652, df=3, p=0.00000001).
Conclusion:This study represents an association of dysbindin gene and schizophrenia in Korean population. Certain haplotypes of dysbindin gene had possible protective effect to schizophrenia. (Korean J Schizophr Res 2006;9:11-14)

Key Words: Schizophrenia,Dysbindin,Single nucleotide polymorphisms,Association,Genotype,Haplotypes.