title: Association between a polymorphism in the pseudoautosomal X-linked gene SYBL1 and bipolar affective disorder.
abstract: In the past decade, several chromosomal regions have been analyzed for linkage with bipolar affective disorder (BPAD). There have been conflicting results regarding the involvement of X-chromosomal regions in harboring susceptibility genes for BPAD. Recently, a new candidate gene (SYBL1) for BPAD has been described on Xq28. SYBL1, which maps to the Xq pseudoautosomal region (PAR), encodes a member of the synaptobrevin family of proteins involved in synaptic vesicle docking, exocytosis, and membrane transport. A subsequent case-control association study, including 110 US-American patients with BPAD and 119 unrelated controls, investigated a potential etiological role of a novel polymorphism (G-->C transversion) in a regulatory region of the SYBL1 gene. In this analysis, the C allele showed a statistical trend to be more frequent in males with BPAD than in respective controls (P=0.06). This finding prompted us to verify whether a similar effect was also present in a larger German sample of 164 unrelated patients with BPAD (148 patients with BP I disorder, 16 patients with BP II disorder) and 267 controls. We observed a significantly increased frequency of genotypes homozygous for the C allele in females with BPAD in comparison with controls (P=0.017). Thus, our data strengthen the role of the SYBL1 gene as a candidate gene for BPAD.
authors.affiliation: Department of Psychiatry, University of Bonn, Bonn, Germany. d.mueller@uni-bonn.de
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Müller
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Schulze
authors.forename: Esther
authors.initials: E
authors.lastname: Jahnes
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
authors.forename: Harald
authors.initials: H
authors.lastname: Krauss
authors.forename: Kristina
authors.initials: K
authors.lastname: Kesper
authors.forename: Tilo
authors.initials: T
authors.lastname: Held
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Peter
authors.initials: P
authors.lastname: Propping
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Marcella
authors.initials: M
authors.lastname: Rietschel
mesh_terms: D000328:Adult; D001714:Bipolar Disorder / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D050683:R-SNARE Proteins; D014960:X Chromosome
chemical_list: D008565:Membrane Proteins; D050683:R-SNARE Proteins; C121241:VAMP7 protein, human