Genetics and CHD

13 November 2014        

Lab gear

Carrying a single mutant copy of the NPC1L1 gene lowers cholesterol and halves the risk of coronary heart disease (CHD) according to new research.

Researchers from the Washington University School of Medicine studied data on over 22,000 people to analyse the effect of the NPC1L1 gene on a person’s risk of CHD.

Everyone inherits two copies of each gene, one from each parent. The findings showed the small fraction of the population carrying one inactive copy of the NPC1L1 gene had lower cholesterol and were 53% less likely to develop CHD.

The cholesterol-lowering drug ezetimibe already works by mimicking this effect, targeting NPC1L1 and shutting it down to lower cholesterol.

This study suggests that ezetimibe will also reduce the risk of cardiovascular events, though at present this is not known.

Professor Jeremy Pearson, our Associate Medical Director, said: “High cholesterol is a major risk factor for coronary heart disease, increasing the risk of a potentially life-threatening heart attack or stroke.

“That’s why researchers are working hard to find new ways to treat this condition.

“The results of this genetic study are interesting and strengthen the likelihood that treatment with ezetimibe, or a more powerful drug acting on the same target, will reduce cardiovascular events.

Whether ezetimibe can do so is currently being tested in a large trial, whose results are eagerly awaited.”