Association of the XBP1 -116C/G polymorphism with schizophrenia in the Japanese population

Chihiro Kakiuchi, Mizuho Ishiwata, Tadashi Umekage, Mamoru Tochigi, Kazuhisa Kohda, Tsukasa Sasaki, Tadafumi Kato

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47 Citations (Scopus)


Schizophrenia and bipolar disorder share some clinical features and linkage studies have shown that several loci are common. Recently, the authors found that the -116C→C substitution in the promotor region of XBP1, a pivotal gene in endoplasmic reticulum (ER) stress response, causes the impairment of ER stress response, and that the -116C/C genotype is a protective factor; in other words the presence of the G allele increases the risk for bipolar disorder. The gene is located on 22q12.1, which is also linked with schizophrenia. The polymorphisms were investigated in 234 schizophrenic patients as compared with controls. Significant difference of genotype distribution was observed, which suggested that the -116C/C genotype is a protective factor for both of the major mental disorders.

Original languageEnglish
Pages (from-to)438-440
Number of pages3
JournalPsychiatry and Clinical Neurosciences
Issue number4
Publication statusPublished - 2004 Aug


  • Association study
  • Rheumatoid arthritis
  • Schizophrenia
  • XBP1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health


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