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Multiple missense mutations in the diazepam binding inhibitor ( DBI ) gene identified in schizophrenia but lack of disease association
Author(s) -
Niu N.,
Rice S.R.,
Heston L.L.,
Sobell J.L.
Publication year - 2003
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.20102
Subject(s) - missense mutation , biology , genetics , single nucleotide polymorphism , gene , phenotype , genotype
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. © 2003 Wiley‐Liss, Inc.