Researchers Find Genetic Link to Early-onset Coronary Artery Disease

According to a Duke Medicine News and Communications news release, researchers at Duke University Medical Center have “identified a variation in a particular gene that increases a person's susceptibility to early coronary artery disease.”

Lead researchers Svati Shah, MD, MHS, Assistant Professor in the Duke Heart Center and the Duke Center for Human Genetics, and Elizabeth Hauser, PhD, Associate Professor in the Department of Medicine and the Center for Human Genetics, had previously studied the genetic basis of coronary artery disease (CAD), finding evidence that a region on chromosome 7 was linked to CAD. Their current research “focused on identifying the gene in that region that confers risk of early onset CAD and identified it as the neuropeptide Y (NPY) gene.” Their data showed evidence for “six related variations of the NPY gene that showed evidence of transmission from generation to generation and association across a population of early-onset CAD patients.”

The researchers collected data on 1,000 families who were participating in the Duke University Cardiology Consortium’s GENECARD study, evaluating them for CAD or evidence of a heart attack. According to the news release, a nonfamilial study using a collection of samples “of nearly everyone who has had an angiogram at Duke since 2001” showed “a strong relationship between the NPY gene variants associated with coronary disease.”

The genetic results were “even stronger in patients with onset of CAD before the age of 37.” Study results also showed that, “among the six variants in the NPY gene, there is a single-nucleotide change of the DNA code on the NPY promoter region of the gene,” a change that is “associated with higher NPY levels in the blood, suggesting that this was the functional change that predisposes a person to early onset CAD.”

"If you had 1 or 2 copies of this mutant version of the gene, there could be a change in NPY level. The concept is that small changes over time can promote atherosclerosis (hardening of the arteries) at a very young age," Shah said.

Read the full study online at the PLoS Genetics website.

Learn more about the GENECARD study.