A case-control study provides evidence of association for a functional polymorphism -197C/G in XBP1 to schizophrenia and suggests a sex-dependent effect

Biochem Biophys Res Commun. 2004 Jul 2;319(3):866-70. doi: 10.1016/j.bbrc.2004.05.060.

Abstract

Schizophrenia and bipolar disorder are two major psychiatric illnesses that may share specific genetic risk factors to a certain extent. Increasing evidence suggests that the two disorders might be more closely related than previously considered. In order to test this hypothesis, we investigated a functional polymorphism -197C/G in XBP1, which was reported to increase the risk of bipolar disorder, in a case-control study (374 cases vs. 371 controls) to evaluate its genetic role in the pathogenesis of schizophrenia. In the present study, this polymorphism was found to be associated with schizophrenia both at allele (P=0.034; OR=1.26, 95% CI 1.02-1.55) and genotype levels (GG vs. CG+CC, 47.59% vs. 38.81%; P=0.016, df=1; OR=1.43, 95% CI 1.07-1.92). Our current data suggest that -197C/G in XBP1 is also a genetic risk factor for schizophrenia. In addition, it presents a sex-dependent genetic effect for the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bipolar Disorder / genetics
  • Case-Control Studies
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Regulatory Factor X Transcription Factors
  • Schizophrenia / genetics*
  • Sex Factors
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • X-Box Binding Protein 1

Substances

  • DNA-Binding Proteins
  • Regulatory Factor X Transcription Factors
  • Transcription Factors
  • X-Box Binding Protein 1
  • XBP1 protein, human

Associated data

  • OMIM/125480
  • OMIM/181500
  • RefSeq/NM_005080