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

研究成果: Article査読

55 被引用数 (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.

ジャーナルBiochemical and Biophysical Research Communications
出版ステータスPublished - 2005 11月 4

ASJC Scopus subject areas

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学


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