Researchers have discovered a previously unrecognized gene variation that makes humans have healthier blood lipid levels and reduced risk of heart attacks.
Researchers from the University of Michigan and the Norwegian University of Science and Technology scanned the genetic information available from a biobank of thousands of Norwegians, focusing on variations in genes that change the way proteins function.
Most of what they found turned out to be already known to affect cholesterol levels and other blood lipids.
But one gene, dubbed TM6SF2, wasn't on the radar at all. In a minority of the Norwegians who carried a particular change in the gene, blood lipid levels were much healthier and they had a lower rate of heart attack.
And when the researchers boosted or suppressed the gene in mice, they saw the same effect on the animals' blood lipid levels.
Cristen Willer, Ph.D., the senior author of the paper and an assistant professor of Internal Medicine, Human Genetics and Computational Medicine and Bioinformatics at the U-M Medical School, said that while genetic studies that focused on common variations may explain as much as 30 percent of the genetic component of lipid disorders, they still don't know where the rest of the genetic risk comes from.
She said that this approach of focusing on protein-changing variation may help them zero in on new genes faster.
Willer and Kristian Hveem of the Norwegian University of Science and Technology suggested the same gene may also be involved in regulating lipid levels in the liver.
The study has been published in the journal Nature Genetics.