The genetics of lipoprotein metabolism and heart disease

Blood lipids are major determinants of risk for cardiovascular disease. Lipid-lowering therapies have been demonstrated to reduce the risk of cardiovascular disease in humans. Genetic variants in many candidate genes are associated with blood lipids. In some instances, such as the association between APOE variants and low-density lipoprotein cholesterol, the associations are similar from population to population. However, for others, the associations may differ between populations. In some instances, these differences related to interactions between the genetic variants and environmental factors. The examination of such associations/interactions tells us something about the biology of human lipoprotein metabolism. However, the utility of genetic variants for predicting cardiovascular disease is currently limited. To date, none of these genetic variants have been shown to improve the ability of predictive functions to discriminate between those at high and low risk of heart disease. To do this, the genetic variants should connote some aspect of risk that is not included in existing predictive functions. Alternatively, they should modify the risk associated with the risk factors in existing functions. Research to determine the impact of these genetic markers as predictors of disease is an important area that is currently underexplored.