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・成人先天性心疾患科Department of Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women’s Medical University ◇ Tokyo, Japan
肺動脈性肺高血圧症（pulmonary arterial hypertension: PAH）の疾患原因遺伝子BMPR2が報告されてから，20年余りが経過した．その後，原因遺伝子および原因遺伝子候補は数十個にまで増加しているが，その臨床現場での意義や有用性が，一般の臨床家には，いまひとつわかりにくいのではないかと筆者は感じている．今回は，2023年の現時点で筆者が特に注目しており，かつ臨床的意義も高いと考えている，TBX4，SOX17，GDF2の3遺伝子に焦点を当てて概説する．さらにエピジェネティック解析，PAH患者とその家族における遺伝学的検査についても述べることとする．最後に，遺伝学的背景に基づいた，PAHの新規治療法の開発の可能性についても触れる．
The disease-causing gene, BMPR2, in pulmonary arterial hypertension (PAH) has been discovered over two decades ago. Subsequently, the number of identified causal genes and candidate genes has increased to several tens. However, general clinicians may find the clinical significance and utility of these genes in the clinical setting challenging to comprehend. This review aimed to provide an overview, particularly focusing on three genes, including TBX4, SOX17, and GDF2, which gained considerable attention and may possess high clinical relevance at present. Additionally, epigenetic analysis and genetic testing in patients with PAH and their families will be introduced. Finally, the potential for developing novel therapeutic approaches for PAH based on genetic backgrounds and present perspectives will be discussed.
Key words: pulmonary arterial hypertension; TBX4; SOX17; GDF2; genetic counseling
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