Mutation analysis of filaggrin gene in Japanese patients with atopic dermatitis

• Project/Area Number: 19591324
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Dermatology
• Research Institution: Osaka City University
• Principal Investigator: FUKAI Kazuyoshi Osaka City University, 大学院・医学研究科, 准教授 (20244642)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2007: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
• Keywords: アトピー性皮膚炎 / フィラグリン / 魚鱗癬 / 尋常性魚鱗癬 / 遺伝子変異 / 角質

Research Abstract

日本人アトピー性皮膚炎の患者について、フィラグリン遺伝子変異解析を行い、新しく4種類のナンセンス変異を同定した。それらはQ835X (2503C>T), possibly Q3122X (9364C>T), R1998X (5992A>T), probably G2200X (6598G>T)であった。日本人アトピー性皮膚炎患者において、フィラグリン遺伝子変異は高頻度(26%)に見られることが明らかとなった。今回の研究により、フィラグリンは日本人アトピー性皮膚炎患者の原因遺伝子として、極めて重要なものであることが明らかとなった。

Research Products

• [Journal Article] Vascular type of Ehlers-Danlos syndrome associated with mild haemophilia A (2009)
  • Author(s): Umekoji A, Fukai K, Hosomi N, Ishii M, Tanaka A, Murakami K, Kamoi H, Mizoguchi M, Utani A.
  • Journal Title: Clin Exp Dermatol 34(1) Pages: 101-101
  • Peer Reviewed
• [Journal Article] Vascular type of Ehlers-Danlos syndrome associated with Mild hemophilia A. (2009)
  • Author(s): Umekoji A, Fukai K, 他
  • Journal Title: Clinical and Experimental Dermatology 34 Pages: 101-101
  • Peer Reviewed
• [Journal Article] Severe dermatitis mimicking deep vein thrombosis caused by hexyldecanol (2008)
  • Author(s): Yanagihara S, Tsuruta D, Fukai K, Ishii M.
  • Journal Title: Contact Dermatitis 59(3) Pages: 177-8
  • Peer Reviewed
• [Journal Article] Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome (2008)
  • Author(s): Hosomi N, Fukai K, Nakanishi T, Funaki S, Ishii M.
  • Journal Title: Br J Dermatol. 159(3) Pages: 744-6
  • Peer Reviewed
• [Journal Article] A novel LMX1B nonsense mutation in a family with nail-patella syndrome (2008)
  • Author(s): Oshimo T, Fukai K, Higashi N, Kitano T, Imai Y, Shintaku H, Ishii M.
  • Journal Title: J Dermatol Sci 52(1) Pages: 57-60
  • NAID: 10024457342
  • Peer Reviewed
• [Journal Article] A case of mosaic-type bullous congenitalichthyosiform erythroderma successfully treated with topical maxacalcitol, a vitamin D3 analogue (2008)
  • Author(s): Umekoji A, Fukai K, Ishii M.
  • Journal Title: Clin Exp Dermatol 33(4) Pages: 501-2
  • Peer Reviewed
• [Journal Article] Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis (2008)
  • Author(s): Hosomi N, Fukai K, Tanaka A, Fujita H, Ishii M.
  • Journal Title: Int J Dermatol. 47(5) Pages: 529-30
  • Peer Reviewed
• [Journal Article] High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation (2008)
  • Author(s): Umekoji A, Fukai K, Kasama T, Yokoi T, Saito M, Tsuruhara A, Ishii M.
  • Journal Title: J Dermatol Sci. 51(1) Pages: 62-5
  • NAID: 10024119486
  • Peer Reviewed
• [Journal Article] Case of cheilitis granulomatosa associated with apical periodontitis (2008)
  • Author(s): Kawakami T, Fukai K, Sowa J, Ishii M, Teramae H, Kanazawa K.
  • Journal Title: J Dermatol. 35(2) Pages: 115-9
  • NAID: 10024296694
  • Peer Reviewed
• [Journal Article] Severe dermatitis mimicking deep vein thrombosis caused By hexyldecanol (2008)
  • Author(s): Yanagihara S, Tsuruta D Fukai K, Ishii M
  • Journal Title: Contact Dermatitis 59 Pages: 177-178
  • Peer Reviewed
• [Journal Article] Caspase-1 activity of stratum corneum and serum Interleukin-18 level are increased in patients with Netherton syndrome (2008)
  • Author(s): Hosomi N, Fukai K, 他
  • Journal Title: British Journal of Dermatology 159 Pages: 744-746
  • Peer Reviewed
• [Journal Article] A novel LMX1B nonsense mutation I a family with Nail-Patella syndrome (2008)
  • Author(s): Oshimo T, Fukai K, 他
  • Journal Title: Journal of Dermatological Science 52 Pages: 57-60
  • Peer Reviewed
• [Journal Article] A case of mosaic-type bullous congenital ichthyosisform Erythroderma successfully treated with topical Maxacalcitol, a vitamin D3 analogue. (2008)
  • Author(s): Umekoji A, Fukai K, 他
  • Journal Title: Clinical and Experimental Dermatology 33 Pages: 501-502
  • Peer Reviewed
• [Journal Article] Fluorescence in situ hybridization analysis is useful For the diagnosis of the carrier state of X-linked Ichthyosis. (2008)
  • Author(s): Hosomi N, Fukai K, 他
  • Journal Title: International Journal of Dermatology 47 Pages: 529-530
  • Peer Reviewed
• [Journal Article] High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. (2008)
  • Author(s): Umekoji A, Fukai K, 他
  • Journal Title: Journal of Dermatological Science 51 Pages: 62-65
  • NAID: 10024119486
  • Peer Reviewed
• [Journal Article] High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. (2008)
  • Author(s): Umekoji A, Fukai K, et, al.
  • Journal Title: Journal of Dermatological Science 49(Mar31)
  • NAID: 10024119486
  • Peer Reviewed
• [Journal Article] Case of cheilitis granulomatosa associated with apical periodontitis. (2008)
  • Author(s): Kawakami T, Fukai K, et. al.
  • Journal Title: Journal of Dermatology 35 Pages: 115-119
  • NAID: 10024296694
  • Peer Reviewed
• [Journal Article] Bilateral segmental neurofibromatosis with gastric carcinoma (2007)
  • Author(s): Kajimoto A, Oiso N, Fukai K, Ishii M.
  • Journal Title: Clin Exp Dermatol. 32(1) Pages: 43-4
  • Peer Reviewed
• [Journal Article] Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. (2007)
  • Author(s): Hosomi N, Oiso N, Fukai K, et. al.
  • Journal Title: Journal of Dermatological Science 45 Pages: 31-36
  • NAID: 10019994854
  • Peer Reviewed
• [Presentation] 強皮症様皮膚硬化を合併した多発性骨髄腫に伴うALアミロイドーシス (2008)
  • Author(s): 細見尚子、石川欣司、中野学、小林晏、深井和吉、曽和順子、石井正光、金子仁臣
  • Organizer: 第107回日本皮膚科学会総会
  • Place of Presentation: 京都市
• [Presentation] Conradi-Hunermann-Happle syndromeの1例 (2008)
  • Author(s): 梅香路綾乃、深井和吉、石井正光、横井俊明、斉藤美佳、鶴原昭史、笠間健嗣
  • Organizer: 第107回日本皮膚科学会総会
  • Place of Presentation: 京都市
• [Presentation] Congenital guttate leukoderma, a new clinical entity- (2008)
  • Author(s): Kazuyoshi Fukai, Atsuko Kadoya, Hiroyuki Teramae and Masamitsu Ishii
  • Organizer: 第20回国際色素細胞会議, 第5回国際メラノーマ研究学会
  • Place of Presentation: 札幌市
• [Presentation] Human piebaldism : a novel mutation of KIT gene and relationship between phenotype and site of the mutation (2008)
  • Author(s): Naoki Oiso, Tamio Suzuki, Ryoji Tsuboi, Yoshihiko Mitsuhashi, Tadamichi Shimizu,Hosomi, Roberto L..Rezende, Ana P. Manzoni, Fernanda Lauermann, Shigeru Kawara and Akira Kawada
  • Organizer: 第5回国際メラノーマ研究学会
  • Place of Presentation: 札幌市
• [Presentation] Trypsin, PAR-1 and PAR-2 mediated IL-8 releases were increased in SPINK5 knock-downed HaCaT cells (2008)
  • Author(s): Naoko Hosomi, Kazuyoshi Fukai, Naoki Oiso, Hiroyuki Kunimoto, Masamitsu Ishii and Koichi Nakajima
  • Organizer: 第5回国際研究皮膚科学会
  • Place of Presentation: 京都市
• [Presentation] Congenital guttate leukoderma, a new clinical entity? (2008)
  • Author(s): K Fukai, A Kadoya, H Teramae, M Ishii
  • Organizer: 第20回国際色素細胞会議, 第5回国際メラノーマ研究学会
  • Place of Presentation: 札幌市
• [Presentation] 皮膚症状を契機に診断された多発性骨髄腫に伴う全身性アミロイドーシス (2007)
  • Author(s): 細見尚子、 石川欽司、中野学、 小林晏、深井和吉、曽和順子、石井正光、金子仁臣
  • Organizer: 第400回日本皮膚科学会大阪地方会
  • Place of Presentation: 奈良市
  • Year and Date: 2007-12-01
• [Presentation] LMX1B遺伝子にフレームシフト変異を認めたNail-Patella症候群 (2007)
  • Author(s): 大霜智子、深井和吉、石井正光、東禹彦、北野利夫、今井祐記、新宅治夫
  • Organizer: 第400回日本皮膚科学会大阪地方会
  • Place of Presentation: 奈良市
  • Year and Date: 2007-12-01
• [Presentation] 2 Conradi-Hunermann-Happle Syndromeの一例 (2007)
  • Author(s): 梅香路綾乃、深井和吉、石井正光
  • Organizer: 第22回角化症研究会
  • Place of Presentation: 東京都
  • Year and Date: 2007-08-04
• [Presentation] 尋常性乾癬患者におけるInterferon regulatory factor 2 遺伝子プロモーター領域のメチル化解析 (2007)
  • Author(s): 細見尚子、深井和吉、大磯直毅、吉良良美、石井正光
  • Organizer: 第29回臨床細胞分子遺伝研究会
  • Place of Presentation: 西宮市
  • Year and Date: 2007-06-30
• [Presentation] 歯科治療にて軽快した肉芽腫性口唇炎の1例 (2007)
  • Author(s): 川上倫子、深井和吉、小野恵理、曽和順子、石井正光、寺前浩之、金沢甲哲
  • Organizer: 第400回日本皮膚科学会大阪地方会
  • Place of Presentation: 大阪市
  • Year and Date: 2007-03-17
• [Presentation] アトピー性皮膚炎に対するオーダーメード医療 (2007)
  • Author(s): 深井和吉
  • Organizer: 大阪市立大学(OCU)ニューテクガイド2007次世代ニーズに向けた新材料・新技術紹介
  • Place of Presentation: 大阪市
  • Year and Date: 2007-01-19
• [Presentation] Interferon regulatory factor2(IRF2)プロモーター多型は若年発症の尋常性乾癬と相関する (2007)
  • Author(s): 細見尚子、深井和吉、大磯直毅、加藤敦、石井正光
  • Organizer: 日本研究皮膚科学会第32回年次学術大会・総会
  • Place of Presentation: 横浜市
• [Presentation] VCXA遺伝子プロモーター上流領域の欠損はX連鎖性魚鱗癬に伴う境界域精神発達遅滞に相関する (2007)
  • Author(s): 細見尚子、大磯直毅、深井和吉、花田一志、藤田弘子、石井正光
  • Organizer: 第106回日本皮膚科学会総会
  • Place of Presentation: 横浜市
• [Presentation] Nested PCR法により診断を確定した猫ひっかき病の一例 (2007)
  • Author(s): 梅香路綾乃、深井和吉、柳原茂人、黒岡定浩、小野恵理、曽和順子、石井正光
  • Organizer: 第106回日本皮膚科学会総会
  • Place of Presentation: 横浜市
• [Presentation] 尋常性乾癬患者におけるInterferon regulatory factor 2 遺伝子プロモーター領域のメチル化解析 (2007)
  • Author(s): 細見尚子、深井和吉、大磯直毅、吉良良美、藤田弘子、石井正光
  • Organizer: 第3回加齢皮膚医学研究会
  • Place of Presentation: 大阪市
• [Presentation] promoter of interferon regulatory factor-2 gene in patients with late-onset psoriasis (2007)
  • Author(s): Naoko Hosomi, Kazuyoshi Fukai, Naoki Oiso, Yoshimi Kira, Tomoko Oshimo and Masamitsu Ishii
  • Organizer: 57th Annual Meeting American Society of Human Genetics
  • Place of Presentation: San Diego, California, USA
• [Presentation] Analysis of methylation status in the promoter of interferon regulatory factor 2 gene in patients with late-onset psoriasis (2007)
  • Author(s): Hosomi N, Fukai K, et. al.
  • Organizer: 57^<th> Annual meeting of the American Society of Human Genetics
  • Place of Presentation: San Diego,USA
• [Book] アレルギー(アレルギーの発症機序、アナフィラキシー、アナフィラキシー様反応の発生機序(「局所麻酔薬中毒・アレルギー」編集 : (浅田章、西川精宣) (2008)
  • Author(s): 深井和吉、曽和順子
  • Publisher: 克誠堂出版
• [Book] アトピー性皮膚炎の看護「整形外科看護」(吹田、13巻、8号) (2008)
  • Author(s): 深井和吉
  • Publisher: メディカ出版
• [Book] 「局所麻酔薬中毒・アレルギー」編集 : 浅田章、西川精宣 (2008)
  • Author(s): 深井和吉, 曽和順子
  • Total Pages: 16
  • Publisher: 克誠堂出版
• [Book] 整形外科看護 (2008)
  • Author(s): 深井和吉
  • Total Pages: 5
  • Publisher: メディカ出版
• [Book] 尋常性白斑、フォークト-小柳-原田病、老人性白斑「看護のための最新医学講座第19巻皮膚科疾患」(第2版)(中川秀巳) (2007)
  • Author(s): 深井和吉、石井正光
  • Publisher: 中山書店