Functional analysis of a common variant associated with narcolepsy

2013 Fiscal Year Final Research Report

• Project/Area Number: 24890047
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: The University of Tokyo
• Principal Investigator: TOYODA Hiromi 東京大学, 医学(系)研究科(研究院), 特任研究員 (90637448)
• Project Period (FY): 2012-08-31 – 2014-03-31
• Keywords: 睡眠 / 遺伝学 / 免疫

Research Abstract

Narcolepsy is one of hypersomnias. It has been hypothesized that it is caused by autoimmune-mediated loss of orexin-producing neurons, although the detailed mechanism remains unknown. In the present study, we identified a novel narcolepsy-associated gene by genome-wide association study and revealed one possible mechanism how this novel gene contributes to the disease development.

Research Products

• [Journal Article] Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population (2014)
  • Author(s): Yamasaki M, Miyagawa T, Toyoda H, Khor SS, Koike A, Nitta A, Akiyama K, Sasaki T, Honda Y, Honda M and Tokunaga K
  • Journal Title: Journal of Human Genetics Pages: 1-6
  • DOI: 10.1038/jhg.2014.13.
• [Journal Article] Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia (2013)
  • Author(s): Khor SS, Miyagawa T, Toyoda H, Yamasaki M, Kawamura Y, Tanii H, Okazaki Y, Sasaki T, Lin L, Faraco J, Rico T, Honda Y, Honda M, Mignot E, Tokunaga K
  • Journal Title: PeerJ Volume: 1 Pages: e66
  • DOI: 10.7717/peerj.66.
• [Presentation] ゲノムワイド関連解析によるナルコレプシー疾患感受性遺伝子の探索 (2013)
  • Author(s): 豊田裕美、宮川卓、Khor Seik Soon、川嶋実苗、山崎茉莉亜、小池麻子、田中進、本多裕、本多真、徳永勝士
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台、江陽グランドホテル
  • Year and Date: 2013-11-22
• [Presentation] ゲノムワイド関連解析によるナルコレプシー疾患感受性遺伝子の探索 (2012)
  • Author(s): 豊田裕美、宮川卓、Khor Seik Soon、川嶋実苗、山崎茉莉亜、小池麻子、田中進、本多裕、本多真、徳永勝士
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京、京王プラザホテル
  • Year and Date: 2012-10-25
• [Presentation] ゲノムワイド関連解析によるナルコレプシー疾患感受性遺伝子の探索 (2012)
  • Author(s): 豊田裕美、宮川卓、Khor Seik Soon、川嶋実苗、山崎茉莉亜、小池麻子、田中進、本多裕、本多真、徳永勝士
  • Organizer: 第21回日本組織適合性学会大会
  • Place of Presentation: 東京、明治大学駿河台キャンパス
  • Year and Date: 2012-09-16