Investigation of a contribution of genes coding for paired receptors, LILR and LAIR families, to connective tissue diseases

• Project/Area Number: 25461467
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Collagenous pathology/Allergology
• Research Institution: University of Tsukuba
• Principal Investigator: KAWASAKI Aya 筑波大学, 医学医療系, 助教 (30532816)
• Co-Investigator(Renkei-kenkyūsha): TSUCHIYA Naoyuki 筑波大学, 医学医療系, 教授 (60231437)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 全身性エリテマトーデス / 全身性強皮症 / 疾患感受性遺伝子 / LILR / HLA-G / 多型 / ANCA関連血管炎 / SNP / LAIR

Outline of Final Research Achievements

To examine whether genes coding for paired receptors, leukocyte immunoglobulin (Ig)-like receptors (LILR), and one of their ligands, HLA-G, contribute to susceptibility to connective tissue diseases such as systemic lupus erythematosus (SLE), association study of LILR and HLA-G genes was conducted in a Japanese population. LILRA3 deletion allele was significantly increased in patients with systemic sclerosis with anti‐topoisomerase I antibodies. With respect to HLA-G, 14bp insertion allele in 3’ untranslated region was associated with SLE with the age of onset <20 years independently of the SLE　susceptible and protective HLA-DRB1 alleles.

Research Products

• [Journal Article] Association of IRF5 polymorphism with MPO-ANCA positive vasculitis in a Japanese population (2013)
  • Author(s): Kawasaki A, Inoue N, Ajimi C, Sada K, Kobayashi S, Yamada H, Furukawa H, Sumida T, Tohma S, Miyasaka N, Matsuo S, Ozaki S, Hashimoto H, Makino H, Harigai M, Tsuchiya N
  • Journal Title: Genes Immun Volume: 14 Issue: 8 Pages: 527-529
  • DOI: 10.1038/gene.2013.45
  • Peer Reviewed
• [Presentation] 日本人全身性エリテマトーデスとHLA-G多型の関連 (2016)
  • Author(s): 川崎 綾、八谷 有紀、古川 宏、近藤 裕也、伊藤 聡、松本 功、草生 真規雄、天野 浩文、須田 昭子、長岡 章平、瀬戸口 京吾、永井 立夫、廣畑 俊成、島田 浩太、杉井 章二、岡本 享、千葉 実行、末松 栄一、大野 滋、片山 雅夫、河野 肇、髙崎 芳成、橋本 博史、住田 孝之、當間 重人、土屋 尚之
  • Organizer: 第60回 日本リウマチ学会総会・学術集会
  • Place of Presentation: パシフィコ横浜（神奈川県）
  • Year and Date: 2016-04-22
• [Presentation] Association of HLA-G and Leukocyte Immunoglobulin-like Receptor A3 Polymorphisms with the Susceptibility to Pulmonary Hyterpention in Systemic Sclerosis (2015)
  • Author(s): Yuki Hachiya, Aya Kawasaki, Takashi Matsushita, Hiroshi Furukawa, Shouhei Nagaoka, Kota Shimada, Shoji Sugii, Keigo Setoguchi, Akira Okamoto, Noriyuki Chiba, Eiichi Suematsu, Masao Katayama, Shunsei Hirohata, Hajime Kono, Kiyoshi Migita, Takayuki Sumida, Shigeto Tohma, Minoru Hasegawa, Naoyuki Tsuchiya et al
  • Organizer: The 2015 American College of Rheumatology Annual Scientific Meeting
  • Place of Presentation: Moscone Center (San Francisco, USA)
  • Year and Date: 2015-11-08
• [Presentation] LILRA4遺伝子多型と全身性エリテマトーデスの関連の検討 (2015)
  • Author(s): 川崎 綾、古川 宏、西田 奈央、近藤 裕也、伊藤 聡、松本 功、草生 真規雄、天野 浩文、須田 昭子、長岡 章平、瀬戸口 京吾、永井 立夫、廣畑 俊成、島田 浩太、杉井 章二、岡本 享、千葉 実行、末松 栄一、大野 滋、片山 雅夫、河野 肇、髙崎 芳成、橋本 博史、住田 孝之、當間 重人、土屋 尚之
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル（東京）
  • Year and Date: 2015-10-16
• [Presentation] Association study of LILRA4 with systemic lupus erythematosus (2015)
  • Author(s): Aya Kawasaki, Hiroshi Furukawa, Yuya Kondo, Shouhei Nagaoka, Kota Shimada, Yoshinari Takasaki, Hiroshi Hashimoto, Takayuki Sumida, Shigeto Tohma, Naoyuki Tsuchiya
  • Organizer: 11th International Congress on Systemic Lupus Erythematosus
  • Place of Presentation: HOFBURG Vienna Congress Center(Vienna, Austria)
  • Year and Date: 2015-09-04
• [Presentation] 免疫グロブリン様受容体LILRA3欠失多型と全身性強皮症との関連 (2014)
  • Author(s): 八谷 有紀、川崎 綾、松下 貴史、古川 宏、長岡 章平、島田 浩太、杉井 章二、住田 孝之、當間 重人、長谷川 稔、藤本 学、佐藤 伸一、竹原 和彦、土屋 尚之
  • Organizer: 日本人類遺伝学会 第59回大会
  • Place of Presentation: タワーホール船堀
  • Year and Date: 2014-11-21
• [Presentation] Association of Leukocyte Immunoglobulin-like Receptor A3 (LILRA3) Deletion Polymorphism with Systemic Sclerosis (2014)
  • Author(s): Yuki Hachiya, Aya Kawasaki, Takashi Matsushita, Hiroshi Furukawa, Shouhei Nagaoka, Kota Shimada, Shoji Sugii, Takayuki Sumida, Shigeto Tohma, Minoru Hasegawa, Manabu Fujimoto, Shinichi Sato, Kazuhiko Takehara, Naoyuki Tsuchiya
  • Organizer: The 2014 American College of Rheumatology Annual Scientific Meeting
  • Place of Presentation: Boston Convention and Exhibit Center(Boston, USA)
  • Year and Date: 2014-11-16
• [Presentation] 免疫グロブリン様受容体LILRA3の構造的・機能的欠失多型と全身性エリテマトーデスの関連研究 (2014)
  • Author(s): 八谷 有紀、川崎 綾、古川 宏、近藤 裕也、伊藤 聡、松本 功、草生 真規雄、天野 浩文、須田 昭子、長岡 章平、瀬戸口 京吾、永井 立夫、廣畑 俊成、島田 浩太、杉井 章二、岡本 享、千葉 実行、末松 栄一、岡本 明子、河野 肇、髙崎 芳成、橋本 博史、住田 孝之、當間 重人、土屋 尚之
  • Organizer: 第58 回日本リウマチ学会総会・学術集会
  • Place of Presentation: グランドプリンスホテル新高輪 国際館パミール
  • Year and Date: 2014-04-24
• [Presentation] Association of functional polymorphisms in IRF2 with systemic lupus erythematosus in a Japanese population.
  • Author(s): Aya Kawasaki, Hiroshi Furukawa, Nao Nishida, Eiji Warabi, Yuya Kondo, Satoshi Ito, Isao Matsumoto, Makio Kusaoi, Akiko Suda, Shouhei Nagaoka, Keigo Setoguchi,Tatsuo Nagai, Shunsei Hirohata, Katsushi Tokunaga, Yoshinari Takasaki, Hiroshi Hashimoto, Takayuki Sumida, Shigeto Tohma, Naoyuki Tsuchiya
  • Organizer: ACR/ARHP 2013 Annual Meeting
  • Place of Presentation: San Diego Convention Center (San Diego, USA)
• [Presentation] IRF2 機能的多型と全身性エリテマトーデスの関連
  • Author(s): 川崎 綾、古川 宏、西田 奈央、蕨 栄治、近藤 裕也、伊藤 聡、松本 功、草生 真規雄、須田 昭子、長岡 章平、瀬戸口 京吾、永井 立夫、廣畑 俊成、徳永 勝士、高崎 芳成、橋本 博史、住田 孝之、當間 重人、土屋 尚之
  • Organizer: 日本人類遺伝学会 第58回大会
  • Place of Presentation: 江陽グランドホテル（宮城県）
• [Remarks] 筑波大学医学医療系分子遺伝疫学研究室
  • URL: http://www.md.tsukuba.ac.jp/community-med/publicmd/GE/
• [Remarks] 筑波大学分子遺伝疫学研究室
  • URL: http://www.md.tsukuba.ac.jp/community-med/publicmd/GE/
• [Remarks] 筑波大学分子遺伝疫学研究室
  • URL: http://www.md.tsukuba.ac.jp/community-med/publicmd/GE/