2022 Fiscal Year Final Research Report
Creation of genetic diagnosis catalog and clinical development for pulmonary arterial hypertension
| Project/Area Number |
19H03670
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 53030:Respiratory medicine-related
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| Research Institution | Keio University (2020-2022)
Kyorin University (2019) |
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Principal Investigator |
Satoh Toru 慶應義塾大学, 医学部(信濃町), 共同研究員 (20170764)
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| Co-Investigator(Kenkyū-buntansha) |
片岡 雅晴 産業医科大学, 医学部, 教授 (20445208)
蒲生 忍 慶應義塾大学, 医学部(信濃町), 訪問教授 (90122308)
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| Project Period (FY) |
2019-04-01 – 2022-03-31
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| Keywords | 肺動脈性肺高血圧症 |
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| Outline of Final Research Achievements |
Whole exome analysis and transcriptome analysis were performed. At the same time, we created a genetic diagnosis catalog that included external factors. Genomic analysis using samples of Japanese PAH patients, we identified novel PAH-causing genes, such as TNFRSF13B, TET2, and RNF213 genes. In addition, the RNF213 R4810K variant is associated with the onset of multiple intractable vascular diseases such as moyamoya disease and peripheral pulmonary artery stenosis, as well as PAH. Thus, we proposed a new disease concept called RNF213-associated vascular disease.
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| Free Research Field |
循環器内科学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の成果は、難病疾患であるPAHにおける新規遺伝子を同定し、新しい発症病態を解明したものである。この成果は、治療反応性の相違や治療介入分子の同定を含んでおり、PAHにおける個別化医療への展開を加速させる重要な成果となった。また、本研究をモデルケースとして、難病疾患におけるゲノム解析と遺伝子診断カタログ作成による臨床への貢献が他疾患へも応用されることが期待され、社会的貢献度も高いと考えられる。
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