Related Experiment Video

Updated: Jan 31, 2026

Direct Re-implantation of Left Coronary Artery into the Aorta in Adults with Anomalous Origin of Left Coronary Artery from the Pulmonary Artery ALCAPA
13:10

Direct Re-implantation of Left Coronary Artery into the Aorta in Adults with Anomalous Origin of Left Coronary Artery from the Pulmonary Artery ALCAPA

Published on: April 24, 2017

19.2K

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

David Adlam1, Timothy M Olson2, Nicolas Combaret3

  • 1Department of Cardiovascular Sciences, Glenfield Hospital, Leicester, and National Institute for Health Research (NIHR) Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.

Journal of the American College of Cardiology
|January 10, 2019
PubMed

Insights

The rs9349379-A genotype is the first identified genetic risk factor for spontaneous coronary artery dissection (SCAD). This finding links SCAD risk to fibromuscular dysplasia (FMD) and provides insights into the condition

Area of Science:

  • Cardiovascular Genetics
  • Vascular Biology
  • Genetic Epidemiology

Background:

  • Spontaneous coronary artery dissection (SCAD) is a significant cause of acute coronary syndromes (ACS), primarily affecting women.
  • SCAD is frequently associated with extracoronary vascular anomalies like fibromuscular dysplasia (FMD), with low prevalence of atherosclerosis.
  • The PHACTR1/EDN1 locus, specifically the rs9349379 variant, is implicated in vascular diseases including FMD and coronary artery disease.

Purpose of the Study:

  • To investigate the association between the rs9349379 genotype and the risk of SCAD.
  • To analyze the impact of this genotype on SCAD risk, age at first event, pregnancy-associated SCAD (P-SCAD), and recurrence.

Main Methods:

  • A meta-analysis was conducted using case-control studies from multiple countries (France, UK, US, Australia).
  • Data from 1,055 SCAD patients and 7,190 controls were analyzed to determine the association with SCAD risk.
  • Subgroup analyses examined the association in patients with and without FMD, and evaluated effects on age at event, P-SCAD, and recurrence.

Main Results:

  • The risk allele for FMD, rs9349379-A, was significantly associated with an increased risk of SCAD (OR 1.67 per copy).
  • The association was stronger in SCAD patients without FMD (OR 1.89) compared to those with FMD (OR 1.60).
  • No significant effect of the rs9349379 genotype was observed on age at first event, P-SCAD, or SCAD recurrence.

Conclusions:

  • The rs9349379 genotype represents the first identified genetic risk factor for SCAD.
  • This genetic link helps explain the clinical overlap observed between SCAD and FMD.
  • The findings contribute to understanding the genetic underpinnings of SCAD and its relationship with other vascular conditions.
Abstract

Keywords:
cardiovascular disease in womenfibromuscular dysplasiagenetic associationmyocardial infarction

More Related Videos

Use of a Hanging Weight System for Coronary Artery Occlusion in Mice08:30

Use of a Hanging Weight System for Coronary Artery Occlusion in Mice

Published on: April 19, 2011

22.1K
Modified Technique for Coronary Artery Ligation in Mice05:47

Modified Technique for Coronary Artery Ligation in Mice

Published on: March 29, 2013

26.6K

Related Concept Videos

Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.1K
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
428
Spontaneity02:21

Spontaneity

A spontaneous process is one that occurs naturally under certain conditions. A nonspontaneous process, on the other hand, will not take place unless it is “driven” by the continual input of energy from an external source. Processes have a natural tendency to occur in one direction under a given set of conditions. Water will naturally flow downhill (spontaneous process), but uphill flow (nonspontaneous process) requires outside intervention such as the use of a pump. Iron exposed to...
29.8K
Coronary Artery Disease V: Interprofessional Care01:27

Coronary Artery Disease V: Interprofessional Care

Interprofessional care for coronary artery disease includes pharmacological therapy and revascularization procedures.Pharmacological therapy for Coronary Artery Disease (CAD) aims to manage symptoms, prevent complications, and improve patient outcomes through various classes of medications:Antiplatelet Agents:Aspirin and Clopidogrel: These medications inhibit platelet aggregation, preventing blood clots, which is crucial for avoiding heart attacks and strokes. Doctors often prescribe these...
267
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.7K
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
369