Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

ABSTRACT:

Background

Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary arterial pressures, right-sided heart failure, and a high mortality rate. Up to 30% of adult and 75% of pediatric PAH cases are associated with congenital heart disease (PAH-CHD), and the underlying etiology is largely unknown. There are no known major risk genes for PAH-CHD.

Methods

To identify novel genetic causes of PAH-CHD, we performed whole exome sequencing in 256 PAH-CHD patients. We performed a case-control gene-based association test of rare deleterious variants using 7509 gnomAD whole genome sequencing population controls. We then screened a separate cohort of 413 idiopathic and familial PAH patients with

SUBMITTER: Zhu N 

PROVIDER: S-EPMC6054746 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature