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Adverse structural remodelling and increased pulmonary vascular resistance result in cardiac hypertrophy and ultimately failure of the right ventricle. Recent whole-genome and whole-exome sequencing studies have identified<jats:italic>SOX17<\/jats:italic>as a novel risk gene in PAH, with a dominant mode of inheritance and incomplete penetrance. Rare deleterious variants in the gene and more common variants in upstream enhancer sites have both been associated with the disease, and a deficiency of<jats:italic>SOX17<\/jats:italic>expression may predispose to PAH. This review aims to consolidate the evidence linking genetic variants in<jats:italic>SOX17<\/jats:italic>to PAH, and explores the numerous targets and effects of the transcription factor, focusing on the pulmonary vasculature and the pathobiology of PAH.<\/jats:p>","DOI":"10.1183\/13993003.04172-2020","type":"journal-article","created":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T18:45:19Z","timestamp":1614278719000},"page":"2004172","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":38,"title":["The pathophysiological role of novel pulmonary arterial hypertension 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