Insights from population-based analyses of plasma lipids across the allele frequency spectrum

Abstract

Plasma lipid levels are heritable quantitative risk factors and therapeutic targets for cardiovascular disease. Plasma lipids have been a model for translating genetic observations across the allele frequency spectrum to unique biological and therapeutic insights. Most large studies to date predominately comprised of individuals of European ancestry. This review focuses on contemporary evidence from 2016 to 2017 looking at the effect of genetic variants on plasma lipid levels across the allele frequency spectrum with incrementally larger sample sizes and the contribution of non-European ancestry studies to the genetic etiology of plasma lipid levels. To date, over 250 loci have been associated with plasma lipid levels and several of these loci have additional evidence of association with rare coding variants providing evidence for causal genes at the locus.