Overall aim of this study
The aim of this study is to recall pre-existent NIHR BioResource held blood samples from patients diagnosed with pulmonary arterial hypertension who harbor deleterious variants in new candidate risk genes (COL6A5, HPSE2, EYS, OR6T1) for DNA sequencing.
Background to the study
Pulmonary arterial hypertension (PAH), or high blood pressure in the lungs, is a rare condition that can shorten life. Approximately, 25% of patients with the idiopathic and 70% of those with a heritable form of the disease have changes (mutations) in genes associated with PAH. While these mutations are a risk factor for PAH, not all patients with the mutation develop the disease. Additional genetic and environmental factors are likely to contribute. Our most recent analysis found new candidate risk genes, which now await confirmation. Such confirmation consists of verification of the variants via Sanger sequencing, expression analysis and structural and functional studies.
Objectives of the study
Participation: For this study 106 DNA samples were provided from the BioResource.
