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.
Footnotes
This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.
Conflict of interest: Dr. Lindner has nothing to disclose.
Dr. Wu has nothing to disclose.
Dr. Wharton has nothing to disclose.
Miss Walters has nothing to disclose.
Miss Vasilaki has nothing to disclose.
Dr. Aman has nothing to disclose.
Dr. Zhao has nothing to disclose.
Dr. Wilkins has nothing to disclose.
Dr. Rhodes reports personal fees from Actelion, personal fees from United Therapeutics, outside the submitted work.
This is a PDF-only article. Please click on the PDF link above to read it.
- Received November 12, 2020.
- Accepted February 8, 2021.
- Copyright ©The authors 2021. For reproduction rights and permissions contact permissions{at}ersnet.org