The major plasma lipids, cholesterol, and triglycerides are transporte
d in the blood by different classes of lipoprotein, which can be diffe
rentiated from each other by their apoprotein and lipid constituents.
Defects in the genes coding for the apolipoprotein components, besides
those coding for lipolytic enzymes and cellular receptors, can cause
an imbalance in the plasma lipid homeostasis. The physiological signif
icance on lipid metabolism of genetic defects, both rare inborn errors
or common genetic variation at these gene loci, are the topics of thi
s review.