ABSTRACT
Advances in biotechnology have facilitated recent genome investigations in lipid disorders.1 Most common lipid disorders are associated with polygenic traits and are greatly influenced by gene-environment interactions. Some disorders are inherited as autosomal dominant traits, which represent phenocopies that are linked to more than one chromosomal locus. Monogenic lipid disorders that run true in different populations are generally rare, but the elucidation of such single-gene defects often reveals crucial information on lipid homeostasis. In this chapter, we will summarize the most significant recent developments in genomic investigation of lipid disorders, including both the rare monogenic diseases and the common complex diseases of lipid metabolism.
