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New genetic risk factors identified for pulmonary arterial hypertension

last modified Jan 07, 2019 09:16 AM

A new study, co-led by Prof Nicholas Morrell and Dr Stefan Gräf follows on from the identification of novel rare protein-coding sequence variation underlying pulmonary arterial hypertension (PAH), published in Nature Communications in 2018.

In the new article, published in Lancet Respiratory Medicine, the researchers have identified two additional loci associating common sequence variation with this devastating disease causing a rare form of high blood pressure in the lungs. This is the largest genetic study to date, comprising more than 2,000 samples of PAH patients across four international cohorts including the NIHR BioResource - Rare Diseases.
The researchers identified a locus upstream of SOX17 containing two independent genome-wide significant signals. Functional and epigenetic investigation then showed that this region likely bears an enhancer which is topologically associated with the promoter of SOX17, a gene that encodes an endothelial transcription factor critical for angiogenesis and arteriovenous development. The second genome-wide significant signal falls between HLA-DPA1 and HLA-DPB1 within the class II MHC region. These studies show that both rare and common protein-coding and regulatory variation can drive significant clinical differences in presentation and outcome.

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