This article is more than 5 years old. Information may no longer be current.
International study ties 21 genes to cholesterol levels
Click Here to Manage Email Alerts
In a large genetic study of cholesterol and other lipids, an international consortium identified 21 new gene variants associated with risks for CVD and metabolic disorders. These findings expand the list of potential targets for drugs and other treatments for lipid-related CVD, researchers said.
The International IBC Lipid Genetics Consortium used the Cardiochip, a gene analysis tool. Since its creation in 2006, researchers have used the Cardiochip to pinpoint gene variants in dozens of studies. The device contains approximately 50,000 DNA markers across 2,000 genes implicated in CVD, according to a press release.
The consortium, which is composed of more than 180 researchers worldwide, analyzed genetic data from about 90,000 people of European ancestry. The researchers first used the Cardiochip in a discovery dataset of more than 65,000 people from 32 previous studies and then sought independent replication in other studies of more than 25,000 people and in a previous study of 100,000 people, according to the release.
According to results of this meta-analysis, the consortium identified 21 novel genes associated with levels of LDL, HDL, total cholesterol and triglycerides. The data also verified 49 known signals. Some of the strongest signals appeared to be sex-specific.
“While each of the genetic variants has a small effect on the specific lipid trait, their cumulative effect can significantly add up to put people at risk for disease. This study underscores how international sharing of resources and datasets paves the way for robust, continuing discoveries of new and unexpected information from human genetic studies,” Fotios Drenos, PhD, of University College London, said in the release.
“To date, this is the largest number of DNA samples ever used in a study for lipid traits,” said Brendan J. Keating, PhD, ascientist at the Center for Applied Genomics at The Children’s Hospital of Philadelphia. “It clearly shows the value of using broad-ranging global scientific collaborations to yield new gene signals.”
The consortium is working on a project to identify which loci reported in this study directly cause disease, as well as how these findings can aid in the development of novel drugs. The consortium will also study interactions among genetic polymorphisms (single-base variations in DNA) and biologic markers of downstream CVD, according to the release.
Perspective
Back to Top
Robert Roberts, MD
Currently, the most effective treatment for CAD disease is statin, which lowers cholesterol by inhibiting its synthesis. The discovery of 21 genes that regulate cholesterol levels offers several new targets to reduce cholesterol by other methods. One recent example of a new therapy for lowering cholesterol is that of PCSK9, which was discovered as a rare genetic variant for CAD. Inhibition of PCSK9 with an antibody has been recently shown to further reduce cholesterol levels over and above that reduced by statins. This was recently published in the NEJM as a major new breakthrough in the treatment of cholesterol.
Click Here to Manage Email Alerts