title: Dysbindin gene (DTNBP1) and schizophrenia in Korean population.
abstract: Dysbindin gene (DTNBP1) has been consistently reported to be associated with schizophrenia. However data from East Asian population has been sparse and inconsistent till today. This study tried to replicate the genetic association of DTNBP1 with schizophrenia in a large Korean sample, as well as analyzing the association of DTNBP1 with clinical variables. Nine hundred and eight (908) patients with schizophrenia and 601 controls were investigated. The high-throughput genotyping method using pyrosequencer (Biotage AB, Sweden) was used for genotyping 4 SNPs (rs3213207, rs1011313, rs760761, and rs2619522). Haplotype analyses revealed a significant association with schizophrenia (P < 0.0001) with the haplotypes A-C-C-C and A-C-T-A having an eminent protective effect toward schizophrenia. The major contribution to the difference in the haplotype distribution between patients and the controls was the rs760761 (C/T) and rs2619522 (A/C) haplotypes (P < 0.0001). No association of DTNBP1 with other clinical variables was found. In conclusion, the present study suggests a possible protective effect of rare DTNBP1 variants in schizophrenia, although subsequent studies in different ethnic groups are warranted.
authors.affiliation: Department of Psychiatry, The Catholic University of Korea College of Medicine, 505 Banpo-Dong, Seocho-Gu, Seoul 137-701, South Korea.
authors.forename: Chi-Un
authors.initials: CU
authors.lastname: Pae
authors.forename: Laura
authors.initials: L
authors.lastname: Mandelli
authors.forename: Diana
authors.initials: D
authors.lastname: De Ronchi
authors.forename: Jung-Jin
authors.initials: JJ
authors.lastname: Kim
authors.forename: Tae-Youn
authors.initials: TY
authors.lastname: Jun
authors.forename: Ashwin A
authors.initials: AA
authors.lastname: Patkar
authors.forename: Alessandro
authors.initials: A
authors.lastname: Serretti
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007723:Korea; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C432416:DTNBP1 protein, human; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins