title: Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia.
abstract: A functional promoter polymorphism (-116C/G) of the X-box binding protein 1 gene (XBP1) gene was reported to be associated with schizophrenia in Asian subjects. In a replication attempt, three European case-control samples comprising 2,182 German, Polish, and Swedish subjects, were genotyped for the XBP1 -116C/G polymorphism. Allele and genotype frequencies were compared between schizophrenic patients and control subjects. There were no significant case-control differences in any of the three samples, although in a meta-analysis with previous results comprising 3,612 subjects there was a borderline association between the -116G-containing genotypes and schizophrenia. We conclude that the functional XBP1 gene polymorphism is not of major importance to schizophrenia in the European populations investigated. It cannot be excluded, however, that the XBP1 polymorphism is involved in schizophrenia in other populations or adds minor susceptibility to the disorder.
authors.affiliation: Department of Clinical Neuroscience, Psychiatry Section, R5:00, Karolinska Institutet, SE-171 76 Stockholm, Sweden. erik.jonsson@cna.ki.se
authors.forename: Erik G
authors.initials: EG
authors.lastname: Jönsson
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
authors.forename: Johannes
authors.initials: J
authors.lastname: Schumacher
authors.forename: Rami
authors.initials: R
authors.lastname: Abou Jamra
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Schulze
authors.forename: Monica
authors.initials: M
authors.lastname: Deschner
authors.forename: Kaj
authors.initials: K
authors.lastname: Forslund
authors.forename: Håkan
authors.initials: H
authors.lastname: Hall
authors.forename: Peter
authors.initials: P
authors.lastname: Propping
authors.forename: Piotr M
authors.initials: PM
authors.lastname: Czerski
authors.forename: Monica
authors.initials: M
authors.lastname: Dmitrak-Weglarz
authors.forename: Pawel
authors.initials: P
authors.lastname: Kapelski
authors.forename: Martin
authors.initials: M
authors.lastname: Driessen
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Joanna
authors.initials: J
authors.lastname: Hauser
authors.forename: Marcella
authors.initials: M
authors.lastname: Rietschel
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D011044:Poland; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000071701:Regulatory Factor X Transcription Factors; D012559:Schizophrenia / Q000235:genetics*; D013548:Sweden; D014157:Transcription Factors; D000071717:X-Box Binding Protein 1
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors; D000071717:X-Box Binding Protein 1; C000605543:XBP1 protein, human