The pathophysiological role of novel pulmonary arterial hypertension gene SOX17

Yukyee Wu, John Wharton, Rachel Walters, Eleni Vasilaki, Jurjan Aman, Lan Zhao, Martin R Wilkins, Christopher J Rhodes

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

Pulmonary arterial hypertension (PAH) is a progressive disease predominantly targeting pre-capillary blood vessels. Adverse structural re-modelling and increased pulmonary vascular resistance result in cardiac hypertrophy and ultimately failure of the right ventricle. Recent whole genome and exome sequencing studies have identified SOX17 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 SOX17 expression may predispose to PAH. This review aims to consolidate the evidence linking genetic variants in SOX17 to PAH and explores the numerous targets and effects of the transcription factor, focussing on the pulmonary vasculature and the pathobiology of PAH.

Original languageEnglish
JournalThe European respiratory journal
DOIs
Publication statusE-pub ahead of print - 25 Feb 2021

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