Rare variant sequences in LMX1B in primary open-angle glaucoma

2019 Fiscal Year Final Research Report

• Project/Area Number: 19K21344
• Project/Area Number (Other): 18H06249 (2018)
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund (2019); Single-year Grants (2018)
• Review Section: 0906:Surgery related to the biological and sensory functions and related fields
• Research Institution: Tohoku University
• Principal Investigator: Shiga Yukihiro 東北大学, 医学系研究科, 大学院非常勤講師 (10623415)
• Project Period (FY): 2018-08-24 – 2020-03-31
• Keywords: 原発開放隅角緑内障 / LMX1B遺伝子 / 希少変異

Outline of Final Research Achievements

As a result of the rare variant sequences in the known causative genes, rare varinats were found in the exons of Optineurin gene and Myocilin gene in POAG patients. In particular, we found a novel causative gene muation coded Optineurin.
Furthermore, we identified two polymorphisms in the exons of LMX1B gene in POAG patients (rs2277158, rs13295990). However, there were no rare mutaions within the gene.

Free Research Field

緑内障

Academic Significance and Societal Importance of the Research Achievements

本研究では、原発開放隅角緑内障(POAG)患者において、既知の原因遺伝子内に病因の可能性が極めて高い希少変異を同定することに成功した。POAG希少変異を探索することで、変異を有するキャリアの早期診断や変異に応じた治療選択の実現が期待される。