Regulator of EDN1 Gene Influences Risk for Five Vascular Disorders

A research team led by Sekar Kathiresan, MD, director of the Center for Genomic Medicine at Massachusetts General Hospital and co-director of the Medical and Populations Genetics Program at the Broad Institute, and Rajat Gupta, MD, a postdoctoral research fellow in Kathiresan’s lab, studied the genome of an EDN1 gene regulator to determine how it impacts the risk for developing five vascular diseases: coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia and hypertension.

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Reported in Cell, the researchers found that a single-nucleotide polymorphism (SNP), named rs9349379 and located within a noncoding DNA region of the PHACTR1 gene, regulates the expression of the endothelin-1 (EDN1) gene, which codes for a precursor of the endothelin-1 protein.

EDN1 affects the ability of blood vessels to dilate or constrict. Higher levels of the gene can cause arteries to harden. Using CRISPR-edited stem cell-derived endothelial cells, the researchers demonstrated that rs9349379 regulates the expression of EDN1. They also found that a guanine nucleotide observed at rs9349379 was associated with higher levels of the endothelin-1 precursor protein produced by EDN1. These affects of EDN1 may explain the associated risk for the five vascular conditions.

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