Causal gene for chronic nonspecific multiple ulcers of the small intestine

• Project/Area Number: 25460953
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Gastroenterology
• Research Institution: Kyushu University
• Principal Investigator: Umeno Junji 九州大学, 大学病院, 助教 (70621704)
• Co-Investigator(Kenkyū-buntansha): MORIYAMA Tomohiko 九州大学, 大学院病態機能内科学, 助教 (20452758) ; ESAKI Motohiro 九州大学, 大学院病態機能内科学, 講師 (50335957) ; 松本 主之 岩手医科大学, 医学部, 教授 (10278955)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2013: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
• Keywords: 小腸潰瘍症 / プロスタグランジン / 小腸潰瘍 / SLCO2A1 / 非特異性多発性小腸潰瘍症 / エクソームシークエンス / 次世代シーケンサー / 常染色体劣性遺伝 / 小腸疾患

Outline of Final Research Achievements

By using exome sequencing loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause the hereditary enteropathy; chronic nonspecific multiple ulcers of the small intestine. We suggest a more
appropriate nomenclature of “chronic enteropathy associated with SLCO2A1 gene” (CEAS). CEAS and primary hypertrophic osteoarthropathy share a causative gene and that their clinical features are profoundly influenced by other modifiers.

Research Products

• [Journal Article] A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter. (2015)
  • Author(s): Umeno J, Hisamatsu T, Esaki M, Atsushi Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T.
  • Journal Title: PLoS Genetics Volume: Nov 5;11(11): Issue: 11 Pages: 1-15
  • DOI: 10.1371/journal.pgen.1005581
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Presentation] Chronic enteropathy associated with SLCO2A1 gene, encoding prostaglandin transporter (CEAS) (2015)
  • Author(s): Junji Umeno, Tadakazu Hisamatsu, Motohiro Esaki, Atsushi Hirano, Shuji Kochi, Kenji Watanabe, Kunihiko Aoyagi, Fumihito Hirai, Toshiyuki Matsui, Tsuneyoshi Yao, Toshifumi Hibi, Takanori Kanai, Takayuki Matsumoto, Takanari Kitazono
  • Organizer: 2015 Advances in Inflammatory Bowel Diseases: Crohn's & Colitis Foundation of America's Clinical & Research Conference
  • Place of Presentation: オーランド
  • Year and Date: 2015-12-11
  • Int'l Joint Research
• [Presentation] 非特異性多発性小腸潰瘍症の原因遺伝子の同定 (2015)
  • Author(s): 梅野淳嗣、江崎幹宏、松本主之
  • Organizer: 第101回消化器病学会総会
  • Place of Presentation: 仙台
  • Year and Date: 2015-04-23
• [Presentation] 非特異性多発性小腸潰瘍症の原因遺伝子の同定 (2015)
  • Author(s): 梅野淳嗣、江崎幹宏、松本主之
  • Organizer: 第101回 日本消化器病学会総会
  • Place of Presentation: 仙台国際センター
  • Year and Date: 2015-04-23
• [Presentation] 全エクソンシーケンスによる非特異性多発性小腸潰瘍症の原因遺伝子同定 (2014)
  • Author(s): 梅野淳嗣、江崎幹宏、松本主之
  • Organizer: 第22回 日本消化器関連学会週間
  • Place of Presentation: 神戸国際会議場
  • Year and Date: 2014-10-24