Scientists discover genetic region linked to bad cholesterol

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Scientists have uncovered a new region in the genome that is responsible for the body's ability to regulate bad cholesterol.

Their findings, published today in the Lancet, provide insight into why some individuals have higher levels of the cholesterol which has been linked to heart attack and stroke.

The researchers, led by Dr Manjinder Sandhu, from the Medical Research Council Epidemiology Unit and the Department of Public Health & Primary Care, found three genetic variations in the same region on chromosome 1 which were all linked to levels of low-density lipoprotein (LDL) cholesterol in the blood.

Teams from the MRC Epidemiology Unit, Cambridge University, the Wellcome Trust Sanger Institute 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.

Dr Sandhu said: “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.”

Professor Nick Wareham, director of the MRC Epidemiology Unit, explained the scale of 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 Paul Matthews, Vice-president of Clinical Pharmacology and Discovery Medicine, GlaxoSmithKline, emphasised the importance of a new partnership in genetics research between GSK and the MRC to find causes for common diseases:

“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.”

Source: By University Of Cambridge