Electronic Thesis and Dissertation Repository


Master of Science




Dr. Robert A. Hegele


Hypercholesterolemia is a classical risk factor for cardiovascular disease development. The genetic etiology of hypercholesterolemia in familial combined hyperlipidemia (FCH), one of the most common genetic dyslipidemias, is poorly understood. We aimed at understanding the genetic etiology of hypercholesterolemia in FCH.

Sequencing, genotyping and computational analyses were performed in a case-control setting to better understand the ‘nature’ aspect of hypercholesterolemia in FCH. My findings suggest that FCH more likely has a polygenic basis.

All my findings have shown that the genetic definition of a disease, especially relatively common diseases like FCH that have been previously considered to be monogenic, may need to be reconsidered. Thus findings from my studies of FCH support a new direction in thinking about the genetic etiology of this common human hyperlipidemia.