Scientists have uncovered a new region in the genome that is responsible for the body’s ability to regulate bad cholesterol which is linked to heart attack and stroke. Their findings are published in The Lancet.

The researchers found three genetic variations in the same region on chromosome 1 which were all linked to levels of LDL-cholesterol in the blood.

Teams from the Medical Research Council Epidemiology Unit, the Wellcome Trust Sanger Institute, Cambridge University and GlaxoSmithKline, studied data from large numbers of people across Europe. They looked at genome-wide scans of more than eleven thousand people to find out which genes affect LDL-cholesterol levels.

“While therapies exist to lower cholesterol levels in people whose levels are too high, much is still unknown about the mechanisms that underlie cholesterol regulation and why some people seem to produce more than others.

“Although what you eat is definitely a factor in your cholesterol levels and some bad cholesterol is dietary in origin, the majority of LDL-cholesterol is produced by the body. Performing a genome-wide study, looking for areas which are associated with cholesterol levels helps us to find out why some people produce more than others.

“We might be able to use this information to identify which people are particularly at risk of developing cholesterol problems. We can also look at the function of the genes involved and find out in what way someone may be having problems regulating bad cholesterol levels. This could help us to design more specific and appropriate treatments.”

Dr Manjinder Sandhu From the MRC Epidemiology Unit and Department of Public Health & Primary Care, Cambridge University, and lead researcher for the study

“This represents a mammoth statistical effort by teams in publicly-funded research establishments, the charitable sector and industry.”

“The collaborative spirit in which the research was carried out and the access to the data and expertise of academic and industry scientists has made this a particularly exciting project, generating solid data that provides novel insights into the regulation of cholesterol.”

Professor Nick Wareham Director of the MRC Epidemiology Unit

“GSK is looking for innovation to bring better medicines to patients. Breakthroughs when dealing with big clinical problems can only come out of open, highly collaborative science like this. GSK is committed to this partnership which it is hoped will yield further results.”

Professor Paul Matthews Vice-president of Clinical Pharmacology and Discovery Medicine, GlaxoSmithKline

“This region has been previously associated with coronary artery disease through the efforts of of the Wellcome Trust Case Control Consortium and Cardiogenics but the findings of this study push our understanding further revealing its implication in lipid levels.”

Dr Panos Deloukas Senior Investigator at the Wellcome Trust Sanger Institute, where part of the study was carried out​