Researchers from Iceland discovered a variant of a gene that was associated with reduced levels of non-high density lipoprotein (HDL) cholesterol and a reduction in the risk of coronary artery disease.
Lead researcher Paul Niohi, PhD, of deCODE genetics in Reykjavik, and colleagues published their results online in the New England Journal of Medicine on May 18.
The study’s senior author was Kari Stefansson, MD, PhD, founder and CEO of deCODE genetics, which is a wholly-owned subsidiary of Amgen, Inc.
For this study, the researchers sequenced the genomes of 2,636 people in Iceland. They then found variants that they imputed in the genomes of approximately 398,000 people in Iceland.
They found a 12-letter deletion in the ASGR1 on chromosome 17, which was linked to a 34 percent lower risk of coronary artery disease and a 15.3 mg/dL reduction in non-HDL cholesterol compared with noncarriers.
Approximately 1 in 120 people in the study population carried the gene mutation, according to the researchers.
The researchers also replicated the gene’s effect in data from approximately 300,000 people in the U.S., Netherlands, Denmark, Germany, New Zealand and the United Kingdom.
Stefansson said in a news release that Amgen is working on targeting ASGR1 and discovering medications to treat osteoporosis, coronary artery disease and migraine. The company said these findings could lead to drugs that inhibit the ASGR1 protein, lower non-HDL cholesterol and prevent heart disease.
“This is a discovery with direct application to improving the health of people around the world,” Stefansson said in a news release. “We know we have put our finger on something fundamental when we find a single variant that confers on carriers an average one year of extra lifespan. Our unrivalled population resources and knowledge of genetics in Iceland put us in a privileged position to systematically discover such low-frequency variants. As our model expands to different corners of the globe, we expect to accelerate our discovery and validation efforts to many populations and all continental ancestries. This is the promise of the big genetics paradigm that we pioneered and that is now delivering to the benefit of patients around the world.”