2019 Fiscal Year Final Research Report

Genetic analysis of familial pulmonary hypertension with the next generation DNA sequencer

Research Project

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Project/Area Number	17K09513
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Research Field	Cardiovascular medicine
Research Institution	Kagoshima University
Principal Investigator	Kubota Kayoko 鹿児島大学, 医歯学域鹿児島大学病院, 講師 (50709863)
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)
Project Period (FY)	2017-04-01 – 2020-03-31
Keywords	肺高血圧 / 遺伝子
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.
Free Research Field	肺循環
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。