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From the DNA of nearly 300,000 veterans, scientists have singled out a handful of genetic mutations that not only govern levels of cholesterol, but may also inform the development and use of drugs for cardiovascular disease and diabetes, according to researchers at the Stanford University School of Medicine and the Palo Alto Veteran Affairs Healthcare System.

Scientists zeroed in on three mutations that disrupt the function of their respective genes. That might sound bad, but in this case, it’s actually beneficial, as veterans who carried one of these mutations showed improved cholesterol profiles in their blood and a decreased risk of either heart disease, abdominal aortic aneurysms, or diabetes, depending on the gene mutation.

‘The idea is to use genetic data linked to electronic health records from a very large number of individuals to find genetic variants that simultaneously improve lipid profiles and protect against cardiovascular disease,’ commented Tim Assimes, MD, PhD, Associate Professor of Cardiovascular Medicine.

‘From there, you can figure out what the best potential drug targets are.’

All three of the main genes pinpointed in the study – PDE3B, PCSK9 and ANGPTL4 – could one day be targets for the treatment of either heart disease, abdominal aortic aneurysm, or diabetes, respectively. The mutation in PDE3B, however, is the most intriguing, Assimes said, because there’s already a drug on the market, called cilostazol, that mimics the beneficial mutation in that gene. Assimes said that cilostazol may now also be a strong candidate for treating heart disease.

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