Using state-of-the-art technology, the international consortium of researchers from the UK, Europe and United States carried out genetic analysis of over 2,000 people with the condition, comprising the largest study to date.
By comparing the genetic profiles of patients and healthy controls, they identified for the first time that common variations in the SOX17 gene and the HLA-DPB1 gene were associated with the condition.
Further examination suggested that some of this variation may influence patient survival, offering new hope for clinical management of this condition. The study is published in The Lancet Respiratory Medicine.
Pulmonary arterial hypertension is rare but debilitating. The arteries in the lungs become blocked, preventing normal blood flow and eventually leading to heart failure. Patients experience fatigue, dizziness, shortness of breath and chest pain, which gets worse as the disease progresses.
The identification of additional genetic risk factors highlights new genetic mechanisms underlying this condition and brings scientists one step closer to identifying at-risk individuals who are predisposed to pulmonary arterial hypertension before the onset of symptoms.
Co-author Dr Laura Southgate, a Lecturer in Genetics at St George’s, University of London, said: “The SOX17 gene is particularly interesting. Rare mutations of this gene have already been detected in some patients but the identification of common variation affecting gene expression indicates that SOX17 might play a more significant role in this disease than previously thought. This research highlights new cell pathways in the progression of PAH and opens up new targets for potential drug development.”