The isolation of atopy dermatitis association genes based on transepidermal water loss and gene polymorphism of skin barrier association genes

• Project/Area Number: 20790268
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• Research Institution: Keio University
• Principal Investigator: SASAKI Takashi Keio University, 総合研究機構, 講師 (70306843)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2008: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
• Keywords: 遺伝子診断学 / アトピー性皮膚炎 / フィラグリン / 経皮水分蒸散量 / アトピー / EDC / SPRR2E / LCE1F

Research Abstract

In this study, I determined the DNA sequence of skin barrier associated genes (LEP7, hKPRP, LCE1F, SPRR2E) derived from atopy dermatitis patients. As a result, I did not find critical mutations which would cause dysfunction of skin barrier in these genes, however, I decided the frequency of polymorphism of these genes in atopy dermatitis patients. I expect that the comparison these polymorphisms of these gens between atopy dermatitis patients and controls would be clear the relationships among these genes and atopy dermatitis.

Research Products

• [Journal Article] A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming. (2009)
  • Author(s): Fallon, P, Sasaki T, Sandilands, A, Campbell, L, Saunders, S, Mangan N, Kawasaki, H, Shiohama, A, Kubo, A, Sundberg, J, Presland, R, Fleckman, P, Shimizu, N, Kudoh, J, Irvine, A, Amagai, M, McLean, WHI.
  • Journal Title: Nature Genetics 41(5) Pages: 602-608
• [Journal Article] A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. (2009)
  • Author(s): Fallon PG, Sasaki T, et al(全18人)
  • Journal Title: Nature Genetics 41(5) Pages: 602-608
  • Peer Reviewed
• [Journal Article] A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming (2009)
  • Author(s): Fallon PG, Sasaki T, 他16名
  • Journal Title: Nature Genetics (in press)
  • Peer Reviewed
• [Journal Article] Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis. (2008)
  • Author(s): Sasaki, T, Kudoh, J., Ebihara, T., Shiohama, A., Asakawa, S., Shimizu, A., Takayanagi, A., Dekio, I., Sadahira, C., Amagai, M., Shimizu, N.
  • Journal Title: J Dermatol. Sci. 51(2) Pages: 113-120
  • NAID: 10024298216
• [Presentation] アトピー性皮膚炎原因遺伝子フィラグリンの病因変異簡便検出法の確立と日本人アトピー性皮膚炎患者での解析 (2008)
  • Author(s): 佐々木貴史, 他10名
  • Organizer: 第15回日本遺伝子診療学会大会
  • Place of Presentation: 仙台市
  • Year and Date: 2008-08-01