Are rare variants in SOX17 associated with pulmonary arterial hypertension with congenital heart disease?
Rare variants in SOX17 are identified as a novel genetic risk factor for pulmonary arterial hypertension associated with congenital heart disease and idiopathic/familial PAH.
These data strongly implicate SOX17 as a new risk gene contributing to PAH-CHD as well as idiopathic/familial PAH. Replication in other PAH cohorts and further characterization of the clinical phenotype will be important to confirm the precise role of SOX17 and better estimate the contribution of genes regulated by SOX17.
Zhu et al. (Fri,) studied this question.