Gene flaws may protect against heart disease

A rare set of genetic mutations found in fewer than one percent of the population may cut the risk of heart disease by 40 percent, researchers said Wednesday. The findings in the New England Journal of Medicine show how certain flaws in a gene called APOC3 work to reduce a certain type of fat found in blood, known as triglycerides. About one in 150 people carry one of these four genetic mutations, said the findings based on a study of the DNA of nearly 4,000 people of European and African ancestry.

The combination of our genetic results, together with recent clinical trials of drugs…are turning decades of conventional wisdom on its head.

Senior author Sekar Kathiresan

Normal levels of triglycerides are generally less than 150 milligrams per deciliter (mg/dL). Among those with any of the four APOC3 mutations, triglyceride levels were around 85 mg/dL. Drugs already exist that can lower triglycerides - which like cholesterol are a type of lipid in the blood - but these have not been proven to lower the risk of heart disease, perhaps because they don’t lower the lipids enough, researchers said.