Mutation Tied to Reduced Heart Disease

Genetic variants that cripple a triglyceride-producing protein are linked with a lower risk of heart attack and stroke.

Written byKerry Grens
| 2 min read

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WIKIMEDIA, YNSEApolipoprotein C3 (APOC3) increases triglyceride levels in the blood, which in turn are tied to a higher chance of cardiovascular disease. Two studies published in the New England Journal of Medicine this week (June 18) report that people with a genetic mutation in the gene for APOC3 have not only lower triglyceride concentrations, but a reduced risk of heart disease as well.

“In medical school we were told to ignore triglycerides and focus on [high-density lipoprotein],” Ethan Weiss, an associate professor at the University of California, San Francisco, School of Medicine, told Forbes. “It turns out that we probably had it backwards, and that we should be paying attention to triglycerides and ignoring HDL.”

In one study, an analysis of more than 110,000 people found that 498 participants who had a loss-of-function mutation in the APOC3 gene had a 40 percent drop in their risk of coronary heart disease, compared to those without such a mutation. In a different group of participants, carriers had 39 percent lower plasma triglyceride levels, 22 percent higher HDL cholesterol levels, and LDL cholesterol levels that were 16 percent lower.

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  • kerry grens

    Kerry served as The Scientist’s news director until 2021. Before joining The Scientist in 2013, she was a stringer for Reuters Health, the senior health and science reporter at WHYY in Philadelphia, and the health and science reporter at New Hampshire Public Radio. Kerry got her start in journalism as a AAAS Mass Media fellow at KUNC in Colorado. She has a master’s in biological sciences from Stanford University and a biology degree from Loyola University Chicago.

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