Research suggests that a group of mutations that hinder the function of the APOC3 gene are associated with lower risks of cardiovascular disease. Two new studies, both published in the New England Journal of Medicine, have explored the same issue and produced the same results.

Specifically, both studies found that people possessing one or more of four mutations in the APOC3 gene had significantly lower triglyceride levels. One study, headed by Dr. Sekar Katherisan, from the Massachusetts General Hospital in Boston, found that these lower levels resulted in a 40 percent reduction in the risk of heart disease. The second study, lead by Anne Tybjærg-Hansen, MD, from Rigshospitalet-Copenhagen University Hospital, found lower risks of heart and vascular diseases resulting from the presence of at least one of these mutations.

Katherisan’s research team conducted their study using 3,734 participants who provided the 18,666 genes that were partially sequenced to determine the interaction between mutations in genes, triglyceride levels and risks of heart disease. Their efforts revealed the strongest relationship between four mutations in the APOC3 gene.

When examining data collected from cohort studies being conducted at the Triglycerides and High-Density Lipoprotein Working Group of the Exome Sequencing Project of the National Heart, Lung and Blood Institute, where Katherisan and colleagues are conducting their research, revealed that the presence of one or more of these mutations in an individual resulted in triglyceride levels that were 39 percent lower than those with no mutations.

The research team headed by Tybjærg-Hansen found an even more pronounced effect. In their study they examined data collected from 75,725 participants in two cohort studies. They found that the presence of at least one mutation affecting the APOC3 gene resulted in triglyceride levels that were 44 percent lower.

These significantly lower triglyceride levels are directly linked to a lower risk of cardiovascular diseases. Already there are treatment options that could utilize these findings and help mitigate the risks of cardiovascular disease.