2023 Fiscal Year Final Research Report

International Collaboration of Molecular Epidemiological Research on Pulmonary Hypertension Associated with Congenital Heart Disease

Research Project

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Project/Area Number	20KK0219
Research Category	Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
Allocation Type	Multi-year Fund
Review Section	Medium-sized Section 58:Society medicine, nursing, and related fields
Research Institution	Kobe Pharmaceutical University
Principal Investigator	Emoto Noriaki 神戸薬科大学, 薬学部, 教授 (30294218)
Co-Investigator(Kenkyū-buntansha)	加藤太一名古屋大学, 医学系研究科, 准教授 (20422777) 片岡雅晴産業医科大学, 医学部, 教授 (20445208) 谷口悠神戸大学, 医学部附属病院, 助教 (80823046)
Project Period (FY)	2020-10-27 – 2024-03-31
Keywords	肺高血圧症 / 心房中隔欠損症 / 学校心臓健診 / インドネシア / 成人先天性心疾患
Outline of Final Research Achievements	This study, as an international collaborative study between Japan and Indonesia, focused on pulmonary hypertension associated with atrial septal defect, and aimed to collect and analyze epidemiological data, establish a school heart screening system and evaluate its usefulness, and search for new causative genes and therapeutic targets. Regarding epidemiological data collection and analysis, approximately 2,400 cases have been registered to date, some of which have been published. Regarding the school heart screening system in Indonesia, a total of over 6,100 heart screenings have been performed, and the screening system in Indonesia has been established. Regarding the identification of new causative genes and the search for therapeutic targets, full exon sequencing was performed on 141 cases, and novel mutations were found in genes reported as causative genes for congenital heart disease.
Free Research Field	循環器内科学分野
Academic Significance and Societal Importance of the Research Achievements	成人先天性心疾患に対する医療は世界的に大きな変革期を迎え、新たな臨床エビデンスの構築や分子レベルでの病態解明が社会的急務である。世界で唯一、学校心臓検診システムが確立し膨大なデータを有し、また最先端の生命科学研究のシステムが確立しているわが国と、膨大な症例数を有し、国を挙げて生命科学研究の導入を図るインドネシアとの間で、これまで培った予備的研究成果をさらに発展させたことが本研究の強みである。本研究の成果は、心房中隔欠損症に伴う肺高血圧症の診療の改善に貢献することが期待される。今後、インドネシアにおける基礎臨床融合国際共同研究拠点に発展すれば自律的かつ持続的な共同研究体制の構築が期待される。