Use of plasma metabolomics to analyze phenotype-genotype relationships in young hypercholesterolemic females.

Hypercholesterolemia is characterized by high plasma LDL cholesterol and often caused by genetic mutations in LDL receptor (), , or proprotein convertase subtilisin/kexin type 9 (). However, a substantial proportion of hypercholesterolemic subjects do not have any mutations in these canonical genes, leaving the underlying pathobiology to be determined. In this study, we investigated to determine whether combining plasma metabolomics with genetic information increases insight in the biology of hypercholesterolemia.