Functional analysis of schizophrenia-associated gene based on a familial case who suffered from the comorbidity of major mental disorders and rare hereditary disease

• Project/Area Number: 23791351
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Dokkyo Medical University
• Principal Investigator: KURATOMI GO 獨協医科大学, 医学部, 助教 (00593592)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 統合失調症 / 認知機能 / 遂行機能 / ワーキングメモリ

Research Abstract

We analyzed the association of HPS4 variants with clinical symptoms and cognitive function in 240 patients with schizophrenia and 240 healthy control subjects who were group matched for age and sex. Variants of HPS4 were significantly associated with executive function in patients with schizophrenia and with working memory in healthy control subjects. There was no significant association between HPS4 variants and Positive and Negative Symptom Scale scores. HPS4 was mainly expressed in mice medial habenula and hippocampal CA1 and CA3 pyramidal cells. The present study suggested the involvement of HPS4 gene in the executive function deficits in patients with schizophrenia.

Research Products

• [Journal Article] Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects (2013)
  • Author(s): Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K.
  • Journal Title: BMC Psychiatry Volume: 13:276 Issue: 1
  • DOI: 10.1186/1471-244x-13-276
  • Peer Reviewed
• [Journal Article] An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients (2013)
  • Author(s): Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Fukushima Y, Inukai T, Ohmori K, Akiyama K.
  • Journal Title: Psychiatr Genet Volume: 23(4) Issue: 4 Pages: 163-73
  • DOI: 10.1097/ypg.0b013e32836130a9
  • Peer Reviewed
• [Presentation] Association of genetic variants in the HPS4 gene with cognitive function in schizophrenia patients and healthy subjects (2013)
  • Author(s): Kuratomi G.
  • Organizer: Neuroscience
  • Place of Presentation: San Diego
  • Year and Date: 2013-11-11
• [Presentation] Cognitive function assessment with BACS-J and PANSS in Japanese schizophrenia patients (2013)
  • Author(s): Akiyama K.
  • Organizer: 11 th World congress of biological psychiatry
  • Place of Presentation: Kyoto
  • Year and Date: 2013-06-26
• [Presentation] Association of genetic variants in the HPS4 gene with cognitive function in schizophrenia patients and healthy subjects (2013)
  • Author(s): Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Akiyama K
  • Organizer: Neuroscience 2013
  • Place of Presentation: San Diego (USA)
• [Presentation] Effect of the HPS4 gene polymorphism on working memory and executive function in schizophrenia patients (2012)
  • Author(s): Kuratomi G.
  • Organizer: Neuroscience
  • Place of Presentation: New Orleans
  • Year and Date: 2012-10-17
• [Presentation] 統合失調症の認知機能障害とドーパミンレセプター多型との関係 (2012)
  • Author(s): 秋山一文
  • Organizer: 第34回日本生物学的精神医学会
  • Place of Presentation: 神戸
  • Year and Date: 2012-09-30
• [Presentation] Effect of the HPS4 gene polymorphism on working memory and executive function in schizophrenia patients (2012)
  • Author(s): Kuratomi G
  • Organizer: NEUROSCIENCE 2012
  • Place of Presentation: New Orleans (USA)
• [Presentation] Association study of HPS4 gene polymorphism with cognitive function in schizophrenia (2011)
  • Author(s): Kuratomi G.
  • Place of Presentation: Washington, DC
  • Year and Date: 2011-11-13
• [Presentation] 小胞輸送関連遺伝子HPS4と統合失調症の関連研究及び認知機能への影響 (2011)
  • Author(s): 倉冨剛
  • Organizer: 第33回日本生物学的精神医学会
  • Place of Presentation: 東京
  • Year and Date: 2011-05-22
• [Presentation] 小胞輸送関連遺伝子HPS4と統合失調症の関連研究及び認知機能への影響 (2011)
  • Author(s): 倉冨 剛
  • Organizer: 第33回日本生物学的精神医学会
  • Place of Presentation: ホテルグランパシフィックLE DAIBA (東京)
• [Presentation] Association study of HPS4 gene polymorphism with cognitive function in schizophrenia (2011)
  • Author(s): 倉冨 剛
  • Organizer: NEUROSCIENCE2011
  • Place of Presentation: Walter E. Washington Convention Center (Washington, DC)