title: Association of the dystrobrevin binding protein 1 gene (DTNBP1) in a bipolar case-control study (BACCS).
abstract: Recent studies suggest a degree of overlap in genetic susceptibility across the traditional categories of schizophrenia and bipolar disorder. There is some evidence for an association of the dystrobrevin binding protein 1 gene (DTNBP1) with schizophrenia, and, thus, this gene has also become a focus of further investigation in bipolar disorder (BD). The aim of our study is to explore the association of DTNBP1 with BD and with a sub phenotype, presence/absence of psychotic symptoms, in a sample of 515 patients with BD (ICD10/DSMIV) and 1,316 ethnically matched control subjects recruited from the UK. Seven DTNBP1 SNPs: rs2743852 (SNP C), rs760761 (P1320), rs1011313 (P1325), rs3213207 (P1635), rs2619539 (P1655), rs16876571 and rs17470454 were investigated using the SNPlex genotyping system and 1 SNP (rs2619522) genotypes were imputed. Association analyses were conducted in a sample of 452 cases and 956 controls. We found significant differences in genotypic and allelic frequencies of rs3213207 and rs760761 of DTNBP1 between bipolar patients and controls. We also showed a global haplotypic association and an association of a particular haplotype with BD. Our results are consistent with previous studies in term of a general association between DTNBP1 and bipolar disorder and provide additional evidence that a portion of the genotypic overlap between schizophrenia and bipolar affective disorder is attributable to this gene.
authors.affiliation: MRC SGDP Centre, Institute of Psychiatry, King's College London, London, UK. dgaisina@mail.ru
authors.forename: Darya
authors.initials: D
authors.lastname: Gaysina
authors.forename: Sarah
authors.initials: S
authors.lastname: Cohen-Woods
authors.forename: Philip C
authors.initials: PC
authors.lastname: Chow
authors.forename: Livia
authors.initials: L
authors.lastname: Martucci
authors.forename: Alexandra
authors.initials: A
authors.lastname: Schosser
authors.forename: Harriet A
authors.initials: HA
authors.lastname: Ball
authors.forename: Federica
authors.initials: F
authors.lastname: Tozzi
authors.forename: Julia
authors.initials: J
authors.lastname: Perry
authors.forename: Pierandrea
authors.initials: P
authors.lastname: Muglia
authors.forename: Ian W
authors.initials: IW
authors.lastname: Craig
authors.forename: Peter
authors.initials: P
authors.lastname: McGuffin
authors.forename: Anne
authors.initials: A
authors.lastname: Farmer
mesh_terms: D000328:Adult; D000483:Alleles; D001714:Bipolar Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C432416:DTNBP1 protein, human; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins