Using Genome-Wide Association Meta-Analysis to Uncover the Cause of Spontaneous Coronary Artery Dissection

Using Genome-Wide Association Meta-Analysis to Uncover the Cause of Spontaneous Coronary Artery Dissection

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Did you know? Heart disease that presents with the same end symptoms, like a heart attack, can be caused by different underlying mechanisms. The most common form of heart disease, coronary artery disease (CAD), is caused by plaque buildup, while spontaneous coronary artery dissection (SCAD) is caused by a tear in the artery wall. In a recent genome wide association meta-analysis, researchers uncover new risk factors for the poorly-understood SCAD.

Types of Cardiovascular Disease

Heart disease is the leading cause of death in the United States, but this umbrella term encompasses several distinct types of heart disease and heart failure. The most common type of heart disease is coronary artery disease (CAD), which is caused by a buildup of plaque in the walls of the arteries that supply the heart with blood. In CAD, the plaque causes the arteries to narrow or become blocked, leading to heart attacks.

A much rarer type of heart disease called spontaneous coronary artery dissection (SCAD) also causes heart attacks, but its pathophysiology is poorly understood. SCAD disproportionately affects a younger, primarily female population. It is not caused by atherosclerosis, or the process of plaque buildup in the arteries, but rather by a tear in the artery wall that causes blood to build up in the space between the layers of the artery wall.

Investigating the Genetics of SCAD

In a recent study published in Nature Genetics, Adlam et al. performed a genome-wide association meta-analysis to look for risk loci associated with SCAD. Their analysis identified 16 risk loci for SCAD, and functional annotation implicated genes related to extracellular matrix biology, vascular tone and tissue coagulation.

Interestingly, several of the associated variants have also been associated with CAD, but with completely opposite contributions. These findings suggest that there may be shared biological processes contributing to both of these types of heart disease operating through distinct molecular mechanisms.

Future Research Directions

The authors of this study contribute new knowledge to understanding the relatively understudied pathophysiology of SCAD. Their findings include 11 novel risk loci, as well as a causal role for high blood pressure as a risk factor for SCAD. Further investigation of the opposite roles of these variants in CAD and SCAD could help uncover global underlying processes involved in heart disease, and functional investigation of the SCAD-associated variants could pave the way for investigations into novel therapeutic strategies.

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Jane Cook, Biochemist & Content Writer, Bridge Informatics

Jane Cook, the leading Content Writer for Bridge Informatics, has written over 100 articles on the latest topics and trends for the bioinformatics community. Jane’s broad and deep interdisciplinary molecular biology experience spans developing biochemistry assays to genomics. Prior to joining Bridge, Jane held research assistant roles in biochemistry research labs across a variety of therapeutic areas. While obtaining her B.A. in Biochemistry from Trinity College in Dublin, Ireland, Jane also studied journalism at New York University’s Arthur L. Carter Journalism Institute. As a native Texan, she embraces any challenge that comes her way. Jane hails from Dallas but returns to Ireland any and every chance she gets. If you’re interested in reaching out, please email [email protected] or [email protected].

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