Novel gene-finding approach yields new gene linked to key heart attack risk factor
Scientists have discovered a previously unrecognized gene variation that gives people healthier blood lipid levels and reduced risk of heart attacks—a finding that opens the door to using this knowledge in testing or treatment of high cholesterol and other lipid disorders. But even more significant is how they found the gene. The region of DNA where it was found had previously been implicated as being important in controlling blood lipid levels. But although this DNA region had many genes, none of them had any obvious link to blood lipid levels.
In a paper published recently in Nature Genetics, a team from the University of Michigan and the Norwegian University of Science and Technology report that they zeroed in on the gene in an entirely new way. The team 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 patients who carried a particular change in the gene, blood lipid levels were much healthier, and the individuals 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.
“While genetic studies that focused on common variations may explain as much as 30% of the genetic component of lipid disorders, we still don't know where the rest of the genetic risk comes from,” says senior author Cristen Willer, PhD. “This approach of focusing on protein-changing variation may help us zero in on new genes faster.” Read the study abstract.
