Genetic Loci Influencing Plasma High Density Lipoprotein Cholesterol Concentrations in Humans

The majority of variation in HDL cholesterol observed at the population level is of polygenic origin and is the result of the complex interaction between genetic and environmental factors. For many years, genotype-phenotype associations were explored by evaluating a single common variant in a candidate gene. Although important genetic determinants of HDL cholesterol variation have been identified in such studies, this approach does not take into account the multifactorial nature of this complex trait. With the advent of genome-wide association (GWA) technology, it is now possible to study relationships between complex genetic traits, such as HDL cholesterol, and common variants in numerous loci in large populations. Over the past few years, GWA analysis has led to the discovery of novel, as well as confirmation of previously known, common genetic determinants of plasma lipoproteins. This review summarizes the results of GWA studies reported from 2007 to present that have identified common genetic loci associated with plasma HDL cholesterol concentrations in humans.