Clarification of the pathogenesis for Crohn's disease by genome-wide association study

2012 Fiscal Year Final Research Report

• Project/Area Number: 22689025
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Gastroenterology
• Research Institution: The Institute of Physical and Chemical Research
• Principal Investigator: YAMAZAKI Keiko 独立行政法人理化学研究所, 多型解析技術開発チーム, 研究員 (50415329)
• Project Period (FY): 2010 – 2012
• Keywords: クローン病 / 一塩基多型(SNP) / 全ゲノム相関解析 (GWAS)

Research Abstract

To clarify the genetic factors for Crohn's disease (CD) in Japanese, we performed a genome-wide association study (372 individuals with CD (cases) and 3389 controls) and a replication study with an independent panel of 1151 CD cases and 15,800 controls. We confirmed the association in the MHC, TNFSF15 and STAT3 regions which have been reported. In addition, we identified two novel susceptibility loci on chromosome 4p14 and in the SLC25A15-ELF1-WBP4 region on 13q14.

Research Products

• [Journal Article] Association study of 71 European Crohn's disease susceptibility loci in a Japanese population (2013)
  • Author(s): Hirano A, Yamazaki K, Umeno J et al.
  • Journal Title: Inflamm Bowel Dis. Volume: 19 Pages: 526-533
  • Peer Reviewed
• [Journal Article] HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. (2011)
  • Author(s): Okada Y, Yamazaki K, Umeno J et al.
  • Journal Title: Gastroenterology. Volume: 141 Pages: 864-871.e1-5
  • Peer Reviewed
• [Journal Article] A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. (2010)
  • Author(s): Kochi Y et al.
  • Journal Title: Nat Genet. Volume: 42 Pages: 515-9
  • Peer Reviewed
• [Journal Article] A Genome-Wide Association Study Identifies 2 Susceptibility Loci for Crohn's Disease in a Japanese Population
  • Author(s): Yamazaki K, Umeno J, Takahashi A et al.
  • Journal Title: Gastroenterology. Volume: (in press)
  • Peer Reviewed
• [Presentation] A genome-wide association study identifies two susceptibility loci for Crohn's disease in a Japanese population (2012)
  • Author(s): Yamazaki K et al.
  • Organizer: ASHG 61th Annual Meeting
  • Place of Presentation: San Francisco (USA)
  • Year and Date: 20121106-08
• [Presentation] 欧米人大規模メタ解析により同定された71 関連領域と日本人クローン病患者の相関解析 (2011)
  • Author(s): 山崎 慶子 et al.
  • Organizer: 日本人類遺伝学会 第56回大会
  • Place of Presentation: 幕張(日本)
  • Year and Date: 2011-11-10
• [Presentation] Association analysis of 71 susceptibility loci for European Crohn's disease in the Japanese population (2011)
  • Author(s): Yamazaki K et al.
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal (Canada)
  • Year and Date: 2011-10-13
• [Presentation] The association analysis of susceptibility loci for ulcerative colitis in Japanese Crohn's disease (2010)
  • Author(s): Yamazaki K et al.
  • Organizer: ASHG 60th Annual Meeting
  • Place of Presentation: USA (Washington D.C.)
  • Year and Date: 2010-11-05
• [Presentation] ゲノムワイド関連解析により同定された潰瘍性大腸炎関連領域と日本人クローン病患者の相関解析 (2010)
  • Author(s): 山崎 慶子 et al.
  • Organizer: 日本人類遺伝学会 第55回大会
  • Place of Presentation: 日本 (大宮)
  • Year and Date: 2010-10-29
• [Remarks]
  • URL: http://www.src.riken.jp/press/2013/130118