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An international study led by a French researcher has just identified 16 genomic regions associated with a higher risk of spontaneous coronary artery dissection (SCAD), a form of infarction that mainly affects women. This discovery makes it possible to better understand the biological mechanisms involved in the onset of this disease.
What is SCAD?
The study, published in the journal Nature Geneticsconstitutes a major advance on the risk factors of spontaneous coronary artery dissection (SCAD), a cause of infarction of which 9 out of 10 victims are women in their forties, “apparently in good health” Inserm informed in a press release.
It occurs when the inner wall of an artery tears and separates from the outer wall of the artery. Blood from the arteries then enters the tear, lodges in the new space between the two walls, enlarges it and eventually forms a clot that blocks blood circulation.
Study results
Directed by Nabila Bouatia-Naji, research director at Inserm at the Paris Cardiovascular Research Center, this large-scale work on the subject has made it possible to identify 16 genomic regions of genetic predisposition to SCAD. The study compared the genetic data of more than 1,900 patients and about 9,300 healthy people. She highlighted the importance of genetic variations in the composition of the “cement” that surrounds the cells of the coronary artery in women who survived SCAD.
This research has shown in particular that a defect in the expression of the F3 gene, which encodes the tissue coagulation factor (it contributes to the resorption of any hematomas), is often found in people affected by SCAD. However, this anomaly would be responsible for poor repair of the arteries, which can lead to their tearing and therefore to infarction. This is the first time that poor hematoma resorption has been identified as a genetic cause of SCAD.
Monitor blood pressure in case of genetic risk of SCAD
This study also found a strong link between high blood pressure and SCAD risk but ruled out high cholesterol, being overweight and type 2 diabetes as risk factors. “This result could therefore be of clinical interest in the longer term, to encourage physicians to closely monitor the evolution of blood pressure in patients who are at increased genetic risk for SCAD.”, comments Nabila Bouatia-Naji.
Another discovery of the study: there is a genetic link between infarction due to SCAD and infarction due to atherosclerosis (deposit of lipids on the walls of the arteries), also called atheromatous infarction. “Researchers have shown that a large number of genomic regions of susceptibility to SCAD are shared with those of atheromatous infarction”, can we read on the Inserm website.
A common but understudied cardiovascular disease
SCAD is the leading cause of heart attack in women and yet little research has been conducted on the subject, “due in particular to a lack of data and a lack of knowledge of the risk factors specific to it, in particular genetic”, emphasizes Inserm. This makes it a disease that is often underdiagnosed, complicating treatment when it could be the cause of up to a third of cases of heart attack in women under 60.
This study with promising results prompted the team of scientists to deepen their research. She is currently working on the development of new cellular and animal models that better reflect the genetic factors involved in the disease. The objective is to measure their impact on the state of the arteries to improve the management of the disease.