Genetic risk factors identified for SCAD

Genome-Wide Association Study meta-analysis identifies 16 genes that increase the risk of having SCAD

New research has revealed underlying genetic risks for SCAD. In the first international Genome Wide Association (GWAS) meta-analysis for SCAD, 16 genes were identified that increase the risk of having a SCAD. 

The study involved 1,917 cases of SCAD and 9,292 controls from European ancestry. The 16 identified genes are involved in processes that determine how the cells and connective tissue hold together and how the blood clots when bleeding occurs in tissues.

Interestingly, the researchers found that, while many genes linked to a higher risk of SCAD are shared with risk genes for conventional coronary artery disease (CAD), they have an opposite effect. This means patients with a SCAD have some genetic protection from the risk of CAD, and is further evidence that these diseases are very different. The only shared risk factor appeared to be genetically elevated blood pressure.

These results enhance the understanding of how SCAD links with other common and rare artery diseases and could lead to preventative strategies and targeted treatments in the future.

Dr David Adlam, Associate Professor of Acute and Interventional Cardiology at the University of Leicester, interventional cardiologist at the University Hospitals of Leicester NHS Trust, and lead author of the study, said: “This research confirms that there are multiple genes involved in determining the risk of a person having a SCAD. These genes give us the first key insight into the underlying causes of this disease and provide new lines of enquiry, which we hope will guide future new treatment approaches.”

Rebecca Breslin, Chair Trustee of Beat SCAD, said, “The Beat SCAD team is excited to see this new GWAS publication revealing further genetic findings relevant to SCAD and opening doors for the next stages of research. The global collaborative efforts continue to bring reassurance to the SCAD community that research progress is happening and we are learning more about SCAD all the time.”

The paper ‘Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation‘ was published in Nature Genetics on 29 May. The research was led by the National Institute for Health and Care Research (NIHR) Leicester Biomedical Research Centre (BRC) and Universite Paris Cite, and supported by worldwide partners in Canada, the USA and Australia

Dr Adlam added: “We are grateful to Beat SCAD, the NIHR and the British Heart Foundation for funding our work, to our international partners for their collaboration and for all the patients with SCAD and healthy volunteers who gave their time to advance this research.”

Rebecca commented, “Many SCAD patients worry about their family members, especially children, being at risk too so I really hope this publication, and Dr Adlam’s accompanying video (see below), brings reassurance to help ease that worry.

“Beat SCAD funding is proving vital to keep our UK research moving, so thank you to all our supporters and fundraisers who enable our small charity to contribute to huge changes in the SCAD world.”

Beat SCAD talked to Dr Adlam about the findings of the research – click here to watch the video.

Read our summary of the paper here 

Dr Adlam
Dr David Adlam