Confirmation of quantitative autistic traits loci using genome-wide meta-analysis

• Project/Area Number: 15K06915
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical genome science
• Research Institution: Nagoya City University (2018); Aichi Medical University (2015-2017)
• Principal Investigator: Nishiyama Takeshi 名古屋市立大学, 大学院医学研究科, 准教授 (40571518)
• Co-Investigator(Kenkyū-buntansha): 鈴木 貞夫 名古屋市立大学, 大学院医学研究科, 教授 (20226509) ; 松尾 恵太郎 愛知県がんセンター(研究所), がん予防研究分野, 分野長 (80393122)
• Co-Investigator(Renkei-kenkyūsha): MATSUDA Fumihiko ; KISHINO Hirohisa
• Research Collaborator: Pourcain Beate St ; Cadby Gemma ; Vásquez Alejandro Arias ; Klein Marieke ; Warrier Varun
• Project Period (FY): 2015-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2017: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000); Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2015: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
• Keywords: 量的自閉症形質 / ゲノムワイド関連研究 / メタアナリシス / 心理学的形質 / 多形質ゲノムワイド関連研究 / 日常睡眠時間 / 龍的自閉症形質

Outline of Final Research Achievements

Genome-wide Association Study（GWAS）of quantitative autistic traits using a score of the Subthreshold Autism Trait Questionnaire (SATQ) was conducted based on 807 and 893 subjects in the Okazaki Study and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC), respectively. Now the GWAS meta-analysis is in progress, aiming for a sample size of 300 thousand.

Academic Significance and Societal Importance of the Research Achievements

量的自閉症形質を規定する遺伝的多型を明らかにすることによって， 自閉スペクトラム症の遺伝要因を解明できるだけではなく，同形質が一般集団の健康や寿命に大きく影響する因果メカニズムの解明にもつながるため，本研究は大きな意義を有するが，現在，最終解析を施行中である．一方，量的自閉症形質以外の心理学的形質として，日常睡眠時間のGWASメタアナリシスを施行することで，飲酒量が日常睡眠時間に与える因果的影響を確証したことは，国民の健康増進に役立つ成果である．

Research Products

• [Int'l Joint Research] Autism Research Centre, Cambridge/Univ. of Bristol, Lecturer(英国)
• [Int'l Joint Research] Univ. of Western Australia(オーストラリア)
• [Int'l Joint Research] Radboud University Medical Center(Netherlands)
• [Int'l Joint Research] Univ. of Western Australia(Australia)
• [Journal Article] Genome-wide association meta-analysis and Mendelian randomization analysis confirm ALDH2 influencing on sleep duration in the Japanese population (2019)
  • Author(s): Nishiyama T, Nakatochi M, Goto A, Iwasaki M, Hachiya T, Sutoh Y, et al.
  • Journal Title: Sleep Volume: 印刷中 Issue: 6
  • DOI: 10.1093/sleep/zsz046
  • Peer Reviewed / Open Access
• [Journal Article] Association of genetic variants of PD1 with recurrent pregnancy loss (2018)
  • Author(s): Hayashi Y, Nishiyama T, Nakatochi M, Suzuki S, Takahashi S, Sugiura-Ogasawara M.
  • Journal Title: American Journal of Nephrology Volume: 17 Issue: 2 Pages: 195-202
  • DOI: 10.1002/rmb2.12093
  • Peer Reviewed
• [Journal Article] Perceived Stress and Colorectal Cancer Incidence: The Japan Collaborative Cohort Study (2017)
  • Author(s): Kikuchi N, Nishiyama T, Sawada T, Wang C, Lin Y, Watanabe Y, Tamakoshi A, Kikuchi S
  • Journal Title: Scientific Report Volume: 7 Pages: 40363-40363
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The influence of personality and perceived stress on the development of breast cancer: 20-year follow-up of 29,098 Japanese women. (2016)
  • Author(s): Sawada T, Nishiyama T, Kikuchi N, Wang C, Lin Y, Mori M, Tanno K, Tamakoshi A, Kikuchi S.
  • Journal Title: Sci Rep. Volume: 2 Issue: 1 Pages: 32559-32559
  • DOI: 10.1038/srep32559
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] アルコールおよびコーヒー摂取量が日常睡眠時間に与える因果効果に関するメンデルランダム化研究 (2019)
  • Author(s): 西山毅,中栃昌弘, 渡邉美紀，中川弘子，鈴木貞夫
  • Organizer: 日本疫学会
• [Presentation] Multi-trait linear mixed-effect modeling of five psychological traits (2018)
  • Author(s): Takeshi Nishiyama, Chaochen Wang, Ryosuke Fujii, Masahiro Nakatochi, Asahi Hishida, Keitaro Matsuo, Sadao Suzuki
  • Organizer: 日本人類遺伝学会
• [Presentation] Genome-wide Association Meta-analysis of Usual Sleep Duration in 31,703 Japanese population (2017)
  • Author(s): Takeshi Nishiyama, Chaochen Wang, Masahiro Nakatochi, Asahi Hishida, Mariko Naito, Kenji Wakai, Michiaki Kubo, Atsushi Goto, Motoki Iwasaki, Atsushi Hozawa, Masayuki Yamamoto, Atsushi Shimizu, Tsuyoshi Hachiya, Kozo Tanno, Makoto Sasaki, Sadao Suzuki
  • Organizer: American Society of Human Genetics
  • Int'l Joint Research
• [Presentation] Genome-wide Association study of Sleep Duration in 14000 Japanese general population (2016)
  • Author(s): Takeshi Nishiyama, Masahiro Nakatochi, Akihiro Hosono, Yuya Tamai, Naoko Tsujimura, Sadao Suzuki, Asahi Hishida, Kenji Wakai, Michiaki Kubo, Hideo Tanaka, Keitaro Matsuo
  • Organizer: American Society of Human Genetics
  • Place of Presentation: Vancouver, Canada
  • Year and Date: 2016-10-21
  • Int'l Joint Research
• [Book] 実践でわかる！Rによる統計遺伝学 (2016)
  • Author(s): 西山毅（監訳），菱田朝陽，中栃昌弘，室谷健太，平川晃弘
  • Total Pages: 273
  • Publisher: 丸善出版