A newly published study in the February 2008 issue of the Lancet throws light on how investigators from University of Cambridge report finding a novel gene locus associated with levels of LDL cholesterol in the blood.   The two main types of cholesterols are, low-density lipoprotein (LDL) and high-density lipoprotein (HDL) both of which carry cholesterol from and to the liver, respectively.  According to the lipid hypothesis, abnormally elevated cholesterol levels (hypercholesterolemia) and abnormal ratio of LDL to HDL are associated with cardiovascular disease by promoting atheroma development in arteries (atherosclerosis). This disease process leads to myocardial infarction (heart attack), stroke and peripheral vascular disease.  As high LDL contributes to this process, it is termed “bad cholesterol”, while high levels of HDL offer a degree of protection and hence is termed the “good cholesterol”.  The balance can be redressed with exercise, a healthy diet, and medication.

In this study the scientists performed a genome-wide association study of LDL cholesterol concentrations. Their analysis used genetic data from 11,685 participants across five studies. They found evidence for a statistically significant link between LDL cholesterol and the chromosome region 1p13.3. The magnitude of the association was consistent across the studies examined and showed independent evidence for statistical association in each study, according to Cambridge team.  These results potentially offer insight into the biological mechanisms that lie behind the regulation of LDL cholesterol and might help in the discovery of novel therapeutic targets for cardiovascular disease.