Association analysis of HSP90B1 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

22 Citations (Scopus)


Pathophysiological role of endoplasmic reticulum (ER) stress response signaling has been suggested for bipolar disorder. The goal of this study was to test the genetic association between bipolar disorder and an ER chaperone gene, HSP90B1 (GRP94/gp96), which is located on a candidate locus, 12q23.3. We tested the genetic association between bipolar disorder and HSP90B1 by case-control studies in two independent Japanese sample sets and by a transmission disequilibrium test (TDT) in NIMH Genetics initiative bipolar trio samples (NIMH trios). We also performed gene expression analysis of HSP90B1 in lymphoblastoid cells. Among the 11 SNPs tested, rs17034977 showed significant association in both Japanese sample sets. The frequency of the SNP was lower in NIMH samples than in Japanese samples and there was no significant association in NIMH trios. Gene expression analysis of HSP90B1 in lymphoblastoid cells suggested a possible relationship between the associated SNP and mRNA levels. HSP90B1 may have a pathophysiological role in bipolar disorder in the Japanese population, though further study will be needed to understand the underlying functional mechanisms.

Original languageEnglish
Pages (from-to)794-803
Number of pages10
JournalJournal of Human Genetics
Issue number10
Publication statusPublished - 2007 Oct


  • Association study
  • Bipolar disorder
  • Endoplasmic reticulum stress
  • Evi12
  • HSP90B1/GRP94/gp96
  • Retrovirus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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