Functional prostacyclin synthase promoter polymorphisms. Impact in pulmonary arterial hypertension.

ABSTRACT:

Rationale

Pulmonary arterial hypertension (PAH) is a progressive disease characterized by elevated pulmonary artery pressure, vascular remodeling, and ultimately right ventricular heart failure. PAH can have a genetic component (heritable PAH), most often through mutations of bone morphogenetic protein receptor 2, and idiopathic and associated forms. Heritable PAH is not completely penetrant within families, with approximately 20% concurrence of inactivating bone morphogenetic protein receptor 2 mutations and delayed onset of PAH disease. Because one of the treatment options is using prostacyclin analogs, we hypothesized that prostacyclin synthase promoter sequence variants associated with increased mRNA expression may play a protective role in the bone morphogenetic protein recept

SUBMITTER: Stearman RS 

PROVIDER: S-EPMC4098107 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature