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Genetic Mutation May Lower Triglycerides, CVD Risk

Independent studies find reduced risk of ischemic disease in mutation carriers

THURSDAY, June 19, 2014 (HealthDay News) -- Mutations of the gene encoding apolipoprotein C3 (APOC3) appear to be associated with lower triglyceride levels and a lessened risk for ischemic cardiovascular disease, according to two articles published online June 18 in the New England Journal of Medicine.

In the first study, researchers at the Broad Institute, Massachusetts General Hospital, and colleagues analyzed protein coding regions in the genes of 3,734 subjects looking for a correlation between rare coding sequence mutations and triglyceride levels. The researchers analyzed more than 110,000 patient samples to definitively establish the relationship between these mutations and risk of heart disease. They found disruptions of the APOC3 function did indeed correlate with lower plasma triglycerides, and that mutation carriers had a lower risk of heart disease.

In the second study, Anders Berg Jørgensen, M.D., Ph.D., of Copenhagen University Hospital in Denmark, and colleagues, examined data on 75,725 subjects. The researchers found carriers of APOC3 mutations were less likely than non-carriers to have high triglyceride levels and to experience ischemic vascular and heart disease.

"Loss-of-function mutations in APOC3 were associated with low levels of triglycerides and a reduced risk of ischemic cardiovascular disease," the authors of the second study wrIte.

Full Text - Study 1 (subscription or payment may be required)
Full Text - Study 2 (subscription or payment may be required)

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