Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 37(1): 2-9 (2021)


肺高血圧症における基礎研究の最近の話題分子遺伝学的背景を中心にUpdates in Basic Research on Molecular Genetic Background of Pulmonary Hypertension

1北海道大学小児科Department of Pediatrics, Hokkaido University Graduate School of Medicine ◇ Hokkaido, Japan

2東京女子医科大学循環器小児科Department of Pediatrics, Tokyo Women’s Medical University ◇ Tokyo, Japan

発行日:2021年4月1日Published: April 1, 2021

分子遺伝学分野の飛躍的な発展に伴い,肺高血圧(pulmonary hypertension: PH)における遺伝学的背景の検討も目覚ましい進歩を遂げている.2018年の6th World Symposium on Pulmonary Hypertension (6th WSPH)においては肺動脈性肺高血圧症(pulmonary arterial hypertension: PAH)の原因遺伝子として17遺伝子が挙げられることとなった.この総説では,6th WSPHの後も次々と同定されているPAHの原因遺伝子候補について,筆者らの検討も含めて解説する.さらにPAHの新たな修飾遺伝子・感受性遺伝子に関する興味深い報告について述べ,その解釈の方法について考察する.最後に,その他の注目すべき基礎研究について紹介する.

With dramatic advances in the field of molecular genetics, the investigation of the genetic background in pulmonary hypertension has also remarkably improved. In 2018, the 6th World Symposium on Pulmonary Hypertension (6th WSPH) identified 17 genes as causative factors for pulmonary arterial hypertension (PAH). In this review, the author discusses the candidate causative genes of PAH that have been identified consecutively after the 6th WSPH. Furthermore, interesting reports on new modifier and susceptibility genes for PAH and the methods of interpreting these genes are discussed. This review also presents other noteworthy basic studies.

Key words: pulmonary hypertension; pulmonary arterial hypertension; pathogenic variant

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