Contribution of <i>APOE</i> Genetic Variants to Dyslipidemia

Abstract

<i>APOE</i> genetic variation contributes to the development of combined hyperlipidemia, usually dysbetalipoproteinemia, and familial hypercholesterolemia. The lipid phenotype in heterozygous for dysbetalipoproteinemia-associated mutations is milder than the homozygous APOE2/2-associated phenotype. Subjects with dysbetalipoproteinemia and absence of APOE2/2 are good candidates for the study of pathogenic variants in <i>APOE</i>. However, more investigation is required to elucidate the significance of rarer variants of apoE.