| Project/Area Number |
19K21344
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| Project/Area Number (Other) |
18H06249 (2018)
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Multi-year Fund (2019)
Single-year Grants (2018) |
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| Review Section |
0906:Surgery related to the biological and sensory functions and related fields
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| Research Institution | Tohoku University |
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Principal Investigator |
Shiga Yukihiro 東北大学, 医学系研究科, 大学院非常勤講師 (10623415)
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| Project Period (FY) |
2018-08-24 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 原発開放隅角緑内障 / LMX1B遺伝子 / 希少変異 / 緑内障 / ゲノム解析 / 個別化医療 / 開放隅角緑内障 / LMX1B |
|---|
| Outline of Research at the Start |
本研究では、我々の先行研究にて同定された新規開放隅角緑内障関連遺伝子座の一つであるLIM
Homeobox Transcription Factor 1 Beta (LMX1B) 遺伝子に着目し、そのエクソン内にある希少変
異と開放隅角緑内障の関連を検証することを目的とする。
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| 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.
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| 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。
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