Functional polymorphisms of HSPA5: Possible association with bipolar disorder

Chihiro Kakiuchi, Mizuho Ishiwata, Shinichiro Nanko, Hiroshi Kunugi, Yoshio Minabe, Kazuhiko Nakamura, Norio Mori, Kumiko Fujii, Tadashi Umekage, Mamoru Tochigi, Kazuhisa Kohda, Tsukasa Sasaki, Kazuo Yamada, Takeo Yoshikawa, Tadafumi Kato

Research output: Contribution to journalArticlepeer-review

55 Citations (Scopus)


Altered endoplasmic reticulum stress (ER) response signaling is suggested in bipolar disorder. Previously, we preliminarily reported the genetic association of HSPA5 (GRP78/BiP) with bipolar disorder. Here, we extended our analysis by increasing the number of Japanese case-control samples and NIMH Genetics Initiative bipolar trio samples (NIMH trios), and also analyzed schizophrenia samples. In Japanese, nominally significant association of one haplotype was observed in extended samples of bipolar disorder but not in schizophrenia. In NIMH trios, no association was found in total samples. However, an exploratory analysis suggested that the other haplotype was significantly over-transmitted to probands only from the paternal side. The associated haplotype in Japanese or NIMH pedigrees shared three common polymorphisms in the promotor, which was found to alter promotor activity. These findings suggested promotor polymorphisms of HSPA5 may affect the interindividual variability of ER stress response and may confer a genetic risk factor for bipolar disorder.

Original languageEnglish
Pages (from-to)1136-1143
Number of pages8
JournalBiochemical and Biophysical Research Communications
Issue number4
Publication statusPublished - 2005 Nov 4


  • Association study
  • Bipolar disorder
  • Endoplasmic reticulum stress
  • HSPA5/GRP78
  • Promotor assay
  • Schizophrenia

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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