Scientists probing the genome for links to disease have found a piece of DNA that can double the chance of early heart attacks and raises risk to other forms of cardiac disease.
The genetic region on the ninth human chromosome, called 9p21, contains no known human genes, the blueprints for protein, and more work is needed to find out what it does, said researchers from DeCode Genetics Inc., the University of Ottawa Heart Institute, and other laboratories in the U.S. and Denmark in two studies released Thursday.
The gene may be particularly helpful at identifying people who are at high risk of heart attacks relatively early in life, said Kari Stefansson, DeCode’s chief executive officer. DeCode, based in Reykjavik, Iceland, is preparing to market a gene test for diabetes and expects to develop a heart risk test based on the gene, he said.
“This is a gene that has a large effect on early-onset heart attacks, before the age of 50 in men and before 60 in women,” Stefansson said. “There is also the possibility of looking at this as a drug target.”
The gene may help doctors identify people who are at the highest risk of heart attack and encourage them to take steps that might help them avoid heart disease, Stefansson said.
The researchers’ next task is “to find out what this DNA represents and what it does,” said Robert Bonow, chief of cardiology at Northwestern University Medical School in Chicago and a past president of the American Heart Association.
Some of the closest genes to the 9p21 region are called CDKN2A and CDKN2B, which are known to suppress tumors, the researchers said. The DNA isn’t associated with blood pressure, cholesterol, diabetes, or other factors that are thought to contribute to heart disease risk.
The vast majority of the human genome is so-called “junk DNA” that contains no genes. While scientists had considered this DNA mere gibberish until recently, new research has shown that much of it is very similar across species, suggesting that it may serve important functions that are not yet understood.
