Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.

The importance of the enzyme lipoprotein lipase (LPL) in the development of dyslipidaemia and atherosclerosis is increasingly recognised. Variations in the LPL gene which are common in the general population have been shown to be associated with alterations in plasma lipids. D9N and N291S both occur at carrier frequencies of up to about 5% and have been associated with increased plasma triacylglycerol and decreased high density lipoprotein cholesterol concentrations, effects which seem to be magnified in more obese individuals. S447X carrier frequency is approximately 20%, but unlike carriers of N9 or S291, X447 carriers appear to have a more favourable lipid profile. A transition within the LPL promoter at position-93 may lead to increased LPL activity and have a beneficial effect on plasma lipids. Greater knowledge of the underlying mechanisms of these variations within the LPL gene may be of considerable importance in understanding genetic predisposition to atherosclerosis and heart disease.