Identification of novel atopic dermatitis candidate genes with sequencing analysis against skin barrier associated 200 genes.

• Project/Area Number: 24591665
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Keio University
• Principal Investigator: SASAKI Takashi 慶應義塾大学, 医学部, 講師 (70306843)
• Co-Investigator(Kenkyū-buntansha): KUBO Akiharu 慶應義塾大学, 医学部, 講師 (70335256)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: アトピー性皮膚炎 / エクソーム / エキソーム / ターゲットリシーケンシング

Outline of Final Research Achievements

We established target resequencing method using next generation DNA sequencer for 600 Atopic Dermatitis (AD) related genes, and analyzed against Japanese AD patients. As a result, we isolated 6 candidate AD related mutations including natural immunity and signal pathway in epithelial cells. We analyzed the one candidate mutation against Japanese 150 AD patients among these candidates. Finally, we found the AD patients who show specific dermatitis at face and neck possess this mutation, frequently, and we currently are confirming this result with other Japanese AD patients.

Research Products

• [Journal Article] ilaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate. (2014)
  • Author(s): Sasaki T, Furusyo N, Shiohama A, Takeuchi S, Nakahara T, Uchi H, Hirota T, Tamari M, Shimizu N, Ebihara T, Amagai M, Furue M, Hayashi J, Kudoh J.
  • Journal Title: J Dermatol Sci. Volume: 76 Pages: 10-15
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] フィラグリン(fillagrin) (2014)
  • Author(s): 佐々木 貴史、天谷 雅行
  • Journal Title: 分子消化器病 Volume: 11 Pages: 88-93