FLG2 gene mutations and atopic dermatitis

• Project/Area Number: 24791129
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hokkaido University
• Principal Investigator: HASEBE Ikue 北海道大学, 医学(系)研究科(研究院), 客員研究員 (70616341)
• Project Period (FY): 2012-04-01 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: アトピー性皮膚炎 / フィラグリン / フィラグリン２

Research Abstract

In this study, we performed mutation analysis of the gene encoding filaggrin (FLG) using DNA samples derived from patients with atopic dermatitis. We identified 11 loss-of-function FLG mutations including a novel one and demonstrated that approximately 30% of AD cases carry one or more FLG mutations. Furthermore, we have identified a nonsense mutation in the gene encoding filaggrin 2 (FLG2), which is predicted to have a similar function as filaggrin, using whole-exome sequence analysis. Now the mutation carrier frequency is being analyzed in AD case series.

Research Products

• [Journal Article] A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. (2014)
  • Author(s): Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH, Shimizu H.
  • Journal Title: European Journal of Dermatology Volume: in press
  • Peer Reviewed
• [Journal Article] Wells' syndrome associated with chronic myeloid leukemia (2013)
  • Author(s): Nakazato S, Fujita Y, Hamade Y, Nemoto-Hasebe I, Sugita J, Nishie W, Shimizu H
  • Journal Title: Acta Dermato-Venereologica Volume: 93巻 Issue: 3 Pages: 375-376
  • DOI: 10.2340/00015555-1483
  • Peer Reviewed
• [Journal Article] 【全身症状を伴う皮膚疾患(2)】<臨床例>慢性骨髄性白血病を合併したWells 症候群 (2013)
  • Author(s): 中里信一, 藤田靖幸, 濱出洋平, 長谷部育恵, 杉田純一, 西江 渉, 清水 宏
  • Journal Title: 皮膚病診療 Volume: 35 Pages: 881-884
  • Peer Reviewed
• [Journal Article] 顔面の腫脹から診断に至った皮下脂肪織炎様T 細胞性リンパ腫の1例 (2013)
  • Author(s): 中里信一, 藤田靖幸, 古口華子, 長谷部育恵, 近藤 健, 白鳥聡一, 西江 渉, 清水宏
  • Journal Title: 皮膚科の臨床 Volume: 55 Pages: 1204-1205
  • Peer Reviewed
• [Journal Article] アフェレシスと希少疾患 成人Still 病, 非定型的皮疹を認め, 免疫抑制剤と血漿交換によって軽快した1例 (2013)
  • Author(s): 長谷部育恵, 阿部理一郎
  • Journal Title: 日本アフェレシス学会雑誌 Volume: 32 Pages: 138-140
  • Peer Reviewed
• [Journal Article] Circumscribed palmar hypokeratosis : Correlation between histopathological patterns and dermoscopic findings (2012)
  • Author(s): Nishimura M, Nishie W, et al.
  • Journal Title: Br J Dermatol Volume: 167 Issue: 1 Pages: 221-2
  • DOI: 10.1111/j.1365-2133.2012.10855.x
  • Peer Reviewed
• [Journal Article] A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris
  • Author(s): Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH, Shimizu H
  • Journal Title: European Journal of Dermatology Volume: (in press)
  • Peer Reviewed