| Project/Area Number |
17K09513
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Cardiovascular medicine
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| Research Institution | Kagoshima University |
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Principal Investigator |
Kubota Kayoko 鹿児島大学, 医歯学域鹿児島大学病院, 講師 (50709863)
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| Co-Investigator(Kenkyū-buntansha) |
大石 充 鹿児島大学, 医歯学域医学系, 教授 (50335345)
池田 義之 鹿児島大学, 医歯学域医学系, 講師 (00573023)
吉満 誠 鹿児島大学, 医歯学域医学系, 准教授 (70404530)
朝野 仁裕 大阪大学, 医学系研究科, 講師 (60527670)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 肺高血圧 / 遺伝子 / 肺高血圧症 / 医療・福祉 |
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| Outline of Final Research Achievements |
Proband and families were identified in kagoshima university hospital.we have used whole exome sequencing to document known and/or novel mutations in genes that could explain the underlying phenotype.
BMPR2 mutations were detected in 6 out of 11including proband.However, BMR2 mutations alone could not explain the inheritance of these patients.
Therefore, we are investigating the association of other gene mutations.
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| Academic Significance and Societal Importance of the Research Achievements |
既存の肺高血圧症における疾患関連遺伝子は浸透率が低く、発症には環境因子等複数の要因が関与していると考えられている。本家系は既存のBMPR2遺伝子だけでなく他の遺伝子変異が関与している可能性が高い。まだ特定に至っていないが、本家系における疾患関連遺伝子が明らかにすることは、特発性肺高血圧症の発症機序や病態の解明に非常に役立つことが予想される。
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