Next-generation sequencing in familial aggregated young-onset diabetes

• Project/Area Number: 16K19534
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Metabolomics
• Research Institution: Kyoto University
• Principal Investigator: Tanaka Daisuke 京都大学, 医学研究科, 助教 (50582904)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 糖尿病 / 遺伝子 / 次世代シーケンス / 家族性若年糖尿病

Outline of Final Research Achievements

The aim of this study was to clarify the genetic background of a family with multiple cases of diabetes accompanied by absolute insulin deficiency using whole-exome sequencing (WES). In a Japanese family, WES was performed in four affected members with absolute insulin deficiency and two unaffected members. I focused on variants that were shared by all of the four affected members. It was revealed that A137T in ADAMTSL3 (rs181914721) was observed more frequently in the subjects with diabetes than in the normoglycemic controls. We propose that A137T in ADAMTSL3 is a candidate mutation for susceptibility to diabetes in this family and in the Japanese population.

Research Products

• [Journal Article] A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) (2018)
  • Author(s): Kato T, Tanaka D, Muro S, Jambaljav B, Mori E, Yonemitsu S, Oki S, Inagaki N.
  • Journal Title: Internal Medicine Volume: 57 Issue: 14 Pages: 2035-2039
  • DOI: 10.2169/internalmedicine.9692-17
  • NAID: 130007404920
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2018-07-15
  • Peer Reviewed / Open Access
• [Journal Article] Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3. (2018)
  • Author(s): Jambaljav B. Tanaka D. Nagashima K. Harashima SI. Harada N. Harada T. Fujiwara Y. Wang Y. Liu Y. Tabara Y. Matsuda F. Koizumi A. Inagaki N.
  • Journal Title: Diabetes Res Clin Pracy. Volume: 135 Pages: 143-149
  • DOI: 10.1016/j.diabres.2017.11.012
  • Peer Reviewed
• [Presentation] Exome Sequencing in a Family with Multiple Cases of Type 1 Diabetes Reveals Candidate Susceptibility Mutations (2016)
  • Author(s): Byambatseren Jambaljav, Daisuke Tanaka, Nobuya Inagaki
  • Organizer: 第59会日本糖尿病学会年次学術集会
  • Place of Presentation: 京都
  • Year and Date: 2016-05-21
• [Remarks] 京都大学教育研究活動データベース
  • URL: https://kyouindb.iimc.kyoto-u.ac.jp/j/xC5yD