Skip to content

Regulator of EDN1 Gene Influences Risk for Five Vascular Disorders

In This Article

  • This research builds on a 2009 Nature Genetics study that detected a common DNA alteration among individuals who had a higher risk for suffering heart attacks
  • Researchers studied the genome of an EDN1 gene regulator to determine how it impacts the risk for developing coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia and hypertension
  • They found that a SNP located within a noncoding DNA region of the PHACTR1 gene, called rs9349379, regulates the expression of the EDN1 gene

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.

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.

Lear more about the Cardiovascular Genetics Program

Refer a patient to the Massachusetts General Hospital Corrigan Minehan Heart Center

Related topics

Related

Massachusetts General Hospital clinicians discuss a male age 55 that presents with left sided chest pain and has a history of hypertension and hyperlipidemia.

Related

Noninvasive models to predict the presence of coronary artery disease may help reduce the societal burden of CAD.