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

2009 Fiscal Year Final Research Report

• 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
• 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

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] 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