Scientists at deCODE genetics, a unit of biotechnology company Amgen, have claimed they identified a new genetic variant that reduces heart disease and stroke risk by 35 percent.

DeCODE’s founder and chief executive Kari Stefansson reported that this is a new biochemical pathway, based not only on a hypothesis or luck in chemistry but on direct human genetic insight.

"This is now a proven paradigm for developing new medicines that Amgen has exploited in the discovery of medicines to treat osteoporosis, coronary artery disease and migraine,” Stefansson said in the official announcement.

The variant, a 12-letter deletion in the ASGR1 gene on chromosome 17, was discovered from analyzing whole genome and clinical data from the Icelandic population and was linked to about a 35 percent reduction in coronary artery disease and heart attack risk. The effect was later replicated in data coming from about 300,000 people from countries like the United States, the Netherlands, Germany and Denmark.

The genetic variation seemed to provide more heart protection than can easily be seen with cholesterol reduction alone – a signal that other processes, such as decreased inflammation, could be at play.

A deletion in the gene means it practically does not work, and this appears to gear toward a drug function. It is much easier to block the protein from a gene using a medicine than to produce more of it, explained Eric Topol, director of the Scripps Translational Science Institute.

Amgen research and development head Sean Harper said that they are already gearing up for testing a drug on humans, which will likely take years.

“If everything were to go perfectly, which it rarely does, we would be in a position to get a molecule into the clinic in around two years,” Harper said in a Forbes report.

The findings were published in the New England Journal of Medicine.

Drugmakers continue to seek to address cardiovascular disease through new therapies. In a separate study from the University of Texas, researchers found that patients with the PCSK9 gene had very low cholesterol and a significantly reduced heart disease risk.

Their findings, which revolved around genetic mutations, resulted in two drugs: Repatha by Amgen and Praluent by Sanofi and Regeneron Pharmaceuticals.

Last year, Amgen’s experimental drug for heart failure treatment, developed in partnership with Cytokinetics Inc., showed promise during a clinical trial that involved more than 445 patients and the drug omecamtiv mecarbil.

Photo: Sharon Sinclair | Flickr