title: Multiple missense mutations in the diazepam binding inhibitor (DBI) gene identified in schizophrenia but lack of disease association.
abstract: The diazepam binding inhibitor (DBI), alternatively known as the acyl-CoA binding protein (ACBP), is involved in multiple biological actions. The polypeptide binds to the peripheral, or mitochondrial, benzodiazepine receptor and facilitates transport of cholesterol to the inner membrane to stimulate steroid synthesis. Through this action, DBI indirectly modulates gamma-aminobutyric acid (GABA)-mediated inhibitory neurotransmission. DBI can be postulated as a candidate gene for psychiatric phenotypes including anxiety, mood, and psychotic disorders. In an examination of the DBI gene among 112 individuals with schizophrenia, our laboratory has identified 18 novel single nucleotide polymorphisms (SNPs), including three missense changes in conserved amino acids, a coding region microdeletion, and multiple SNPs in the putative promoter region. Case-control association analyses were performed for the missense changes, but none was found to be significantly associated with disease.
authors.affiliation: Division of Molecular Medicine, City of Hope National Medical Center, Duarte, California, USA.
authors.forename: N
authors.initials: N
authors.lastname: Niu
authors.forename: S R
authors.initials: SR
authors.lastname: Rice
authors.forename: L L
authors.initials: LL
authors.lastname: Heston
authors.forename: J L
authors.initials: JL
authors.lastname: Sobell
mesh_terms: D017931:DNA Primers / Q000235:genetics; D026261:Diazepam Binding Inhibitor; D004198:Disease Susceptibility; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D026261:Diazepam Binding Inhibitor; D011963:Receptors, GABA-A