Genetic association analyses of computationally derived phenotypes implicate extracellular matrix in the pathogenesis of pulmonary arterial hypertension

Study code

Lead researcher
Emilia Swietlik

Study type
Samples and data

Institution or company
University of Cambridge

Researcher type

Speciality area
Cardiovascular Disease


Overall aim of this study 

The aim of this study is to recall pre-existent NBR blood samples from patients diagnosed with pulmonary arterial hypertension who harbor deleterious variants in new candidate risk genes (COL6A5, HPSE2, EYS, OR6T1) for Sanger 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 

  • To recall pre-existing NBR blood samples from PAH patients who harbor deleterious variants in COL6A5, HPSE2, EYS, OR6T for Sanger sequencing 

Participation: For this study 106 DNA samples were provided from the BioResource. 

Organisation: This study is organised by Emilia  Swietlik from the Department of Medicine at the University of Cambridge.