Idiopathic Pulmonary Arterial Hypertension Sequencing Study Identifies New Susceptibility Gene

NEW YORK – Researchers have tied rare variants in the PTGIS gene to susceptibility to idiopathic pulmonary arterial hypertension.

Pulmonary arterial hypertension is rare, with about 1,000 new diagnoses in the US each year, according to the National Institutes of Health. About 17 genes have been linked to PAH risk, but these risk genes only account for a small portion of idiopathic PAH (IPAH). Variants in BMPR2 — the most common causal gene — only explain about 17 percent of idiopathic PAH cases.