Common Genetic Variant Found for Multiple Vascular Diseases

11/2017

In a recent study published in Cell, scientists showed how a common genetic variant in chromosome 6 affects the risk for several vascular disorders, including coronary artery disease, cervical artery dissection, hypertension, fibromuscular dysplasia, and migraine headache. Researchers showed that this variant enhances the activity of the endothelin-1 gene, which promotes vasoconstriction and hardening of the arteries. Scientists looked at genetic variants associated with increased risk for coronary artery disease and heart attacks from data collected from over 200,000 people. Analysis of the data revealed that screening for this variant could improve risk assessment for vascular disease and ways to prevent and treat it. These findings are significant because they point to endothelin-1 as important for several vascular diseases.

Full details of the study can be found in the Cell publication: Gupta et al., A genetic variant associated with 5 vascular diseases is a distal regulator of Endothelin-1 gene expression. Cell, 2017 doi: 10.1016/j.cell.2017.06.049 or in the ScienceDaily web article linked below.


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