SOX17 Gene may Contribute to PAH with Congenital Heart Disease

Jul 28, 2018 | CHD, Genomics, PAH

The SOX17 may be a risk gene that contributes to pulmonary arterial hypertension (PAH) associated with congenital heart disease (CHD), as well as to idiopathic and/or familial PAH according to a recent study published in Genomic Medicine.

For more on PAH see May Clinic’s description:

CHD, according to the present body of evidence, occurs in up to 30% of adult-onset and 75% of pediatric-onset cases of PAH.  Surgical repair of heart defects may not eliminate PAH, which can also return years post-surgery.  To date, no significant risk gene has been discovered for the disease.

Columbia University Medical Center investigators in a quest to identify new genetic causes of PAH-CHD, directed a molecular analysis known as “exome sequencing,” which helps determine the sequence of gene portions, known as “exons.” These exons contain genetic information to produce proteins in 256 PAH-CHD patients.

One study team evaluated rare gene variants known as “deleterious” which means that they impact protein function and increase an individual’s risk of developing a disorder.  Thereafter, data from PAH-CHD patients were compared to a separate group of 413 idiopathic and familial PAH patients with CHD.

The conclusion—the team identified SOX17 as a new risk gene candidate, implicated in up to 3.2% of PAH-CHD cases.


Research/Investigative Site:

Columbia University Medical Center, New York

Lead Research/Investigator:

Wendy K Chung, Department of Pediatrics, Columbia University Medical Center


NHLBI HL060056 (to WKC), NIH/NCATS Colorado Clinical and Translational Science Award UL1 TR001082 (DDI), and The Jayden de Luca Foundation (DDI). Funding for the PAH Biobank was provided by NHLBI R24HL105333 (WCN). Y.S. was partly supported by NIH grant R01GM120609.


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