Genetics of cholesterol could lead to new treatments for heart disease, diabetes

A team of researchers partly funded by NHLBI has identified genetic mutations that govern blood cholesterol levels. The findings, published in Nature Genetics, could lead to the development and use of new therapies for cardiovascular disease, which includes heart disease and stroke, and diabetes.

The study used DNA of nearly 300,000 veterans from the VA’s Million Veteran Program (MVP), a large-scale multiethnic biobank launched in 2011 to investigate the role of genetic, behavioral and environmental factors in complex diseases.

The researchers zeroed in on three mutations that disrupt the function of their respective genes. Disruption is not always a negative thing. In this case, the veterans who had one of these mutations had better blood cholesterol numbers and lower risk of either heart disease, abdominal aortic aneurysms or diabetes, depending on the gene mutation.

According to the researchers, the idea is to use genetic data linked to electronic health records to find variants that simultaneously improve lipid profiles and protect against cardiovascular disease. That is the first step to figure out what are the best potential drug targets.