Analysis of pancreatitis-associated gene variation by next-generation sequencing

• Project/Area Number: 25670363
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Gastroenterology
• Research Institution: Tohoku University
• Principal Investigator: SHIMOSEGAWA Tooru 東北大学, 大学病院, 教授 (90226275)
• Co-Investigator(Kenkyū-buntansha): MASAMUNE Atsushi 東北大学, 大学院医学系研究科, 准教授 (90312579) ; KUME Kiyoshi 東北大学, 大学病院, 助教 (30431563) ; HAMADA Shin 東北大学, 大学院医学系研究科, 助教 (20451560)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 次世代シークエンス / 膵炎関連遺伝子 / 膵炎 / 次世代シークエンサー / マイクロRNA / SNP

Outline of Final Research Achievements

We performed comprehensive analysis of gene variation in CFTR gene using next-generation sequencing. Total 10 non-synonymous and 6 synonymous variants were identified. Among them, the frequency of the c.4056G>C (p.Q1352H) variant was higher in patients with chronic pancreatitis.

Research Products

• [Journal Article] Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis. (2015)
  • Author(s): Nakano E, Masamune A, Niihori T, Kume K, Hamada S, Aoki Y, Matsubara Y, Shimosegawa T.
  • Journal Title: Dig Dis Sci. Volume: [Epub ahead of print]
  • Peer Reviewed