Year: 2013
Type: article
Study design: Observational Study
Abstract: 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.\nSequencing, 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.\nAll 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.
Author: Mary A. Bamimore
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2161727278