New genetic insight could help treat rare debilitating heart and lung condition

The largest study of genetic variation in patients with pulmonary arterial hypertension has associated two important genes with the disease. In collaboration with institutes from Europe and Northern America, researchers from Imperial College London have conducted the largest genetic analysis to date of 2,000 patients with pulmonary arterial hypertension (PAH) and identified associations with two genes. This is the first study at the scale required to look at how common genetic variations influence pulmonary arterial hypertension Dr Christopher Rhodes Study author PAH is a rare form of pulmonary hypertension that affects the blood vessels in the lungs, causing high blood pressure that can lead to heart failure. The disease is often fatal and, on average, patients survive 5-6 years after diagnosis. Sufferers feel breathless and tired, with symptoms worsening during exercise. The research is the first to demonstrate that variations in the SOX17 gene and the HLA-DPB1 gene were associated with PAH. Insight into the genetic mechanisms behind this life-threatening disease could help inform treatments and identify new therapeutic targets.