A comprehensive association study of IRF family genes in genetic predisposition to connective tissue diseases.

2010 Fiscal Year Final Research Report

• Project/Area Number: 21790935
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: 膠原病・アレルギー・感染症内科学
• Research Institution: University of Tsukuba
• Principal Investigator: KAWASAKI Aya University of Tsukuba, 大学院・人間総合科学研究科, 研究員 (30532816)
• Research Collaborator: TSUCHIYA Naoyuki 筑波大学, 大学院・人間総合科学研究科, 教授 (60231437)
• Project Period (FY): 2009 – 2010
• Keywords: 全身性エリテマトーデス / 疾患感受性遺伝子 / インターフェロン / IRF / SNP

Research Abstract

We examined whether IRF and TLR related genes contribute to the susceptibility to systemic lupus erythematosus (SLE). Association of IRF7 and TLR7 essential for the induction of type I interferon was detected in Japanese. A single nucleotide polymorphism (SNP) located closely to IRF7 was associated with the presence of anti-Sm antibodies and renal disorder in SLE. In addition, SNPs in TLR7 3' untranslated region and intron were associated with SLE independently. Association of TNFAIP3 and TNIP1 was also observed.

Research Products

• [Journal Article] TLR7 single-nucleotide polymorphisms in the 3' untranslated region and intron 2 independently contribute to systemic lupus erythematosus in Japanese women : a case-control association study (2011)
  • Author(s): Kawasaki A, Furukawa H, Kondo Y, Ito S, Hayashi T, Kusaoi M, Matsumoto I, Tohma S, Takasaki Y, Hashimoto H, Sumida T, Tsuchiya N
  • Journal Title: Arthritis Res Ther Vol.13 Pages: R41
  • Peer Reviewed
• [Journal Article] 全身性エリテマトーデスとTNFAIP3,TNIP1多型の関連 (2011)
  • Author(s): 川崎綾
  • Journal Title: 医学のあゆみ 236巻 Pages: 286-287
• [Journal Article] Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a Japanese population : a case-control association study (2010)
  • Author(s): Kawasaki A, Ito S, Furukawa H, Hayashi T, Goto D, Matsumoto I, Kusaoi M, Ohashi J, Graham RR, Matsuta K, Behrens TW, Tohma S, Takasaki Y, Hashimoto H, Sumida T, Tsuchiya N
  • Journal Title: Arthritis Res Ther Vol.12 Pages: R174
  • Peer Reviewed
• [Journal Article] IRF5遺伝子多型と膠原病の関連 (2010)
  • Author(s): 川崎綾
  • Journal Title: リウマチ科 43巻 Pages: 526-531
• [Journal Article] Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population (2010)
  • Author(s): Kawasaki A, Ito I, Ito S, Hayashi T, Goto D, Matsumoto I, Takasaki Y, Hashimoto H, Sumida T, Tsuchiya N
  • Journal Title: J Biomed Biotechnol Vol.2010 Pages: 207578
  • Peer Reviewed
• [Journal Article] リウマチ性疾患とI 型インターフェロン関連遺伝子 (2010)
  • Author(s): 川崎綾
  • Journal Title: 炎症と免疫 18巻 Pages: 44-48
• [Presentation] Association of TNFAIP3 and TNIP1 SNPs with systemic lupus erythematosus in a Japanese population (2010)
  • Author(s): Kawasaki A
  • Organizer: The 9th International Congress on Systemic Lupus Erythematosus
  • Place of Presentation: バンクーバー(カナダ)
  • Year and Date: 2010-06-25
• [Presentation] 日本人集団におけるTLR7多型と全身性エリテマトーデスの関連 (2010)
  • Author(s): 川崎綾
  • Organizer: 第54回日本リウマチ学会学術集会
  • Place of Presentation: 神戸ポートピアホテル(兵庫県)
  • Year and Date: 2010-04-22
• [Presentation] TNFAIP3遺伝子多型と全身性エリテマトーデスの関連 (2009)
  • Author(s): 川崎綾
  • Organizer: 第40回日本免疫学会学術集会
  • Place of Presentation: 大阪国際会議場(大阪府)
  • Year and Date: 2009-12-04
• [Remarks] ホームページ等
  • URL: http://www.md.tsukuba.ac.jp/community-med/publicmd/GE/CCP004.html