Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Functional genomic and epidemiological studies reveal novel genes regulating cholesterol metabolism | Genome Medicine Minireview Functional genomic and epidemiological studies reveal novel genes regulating cholesterol metabolism Kris Richardson and Jose M Ordovas Address Nutrition and Genomics Laboratory Lipid Metabolism Laboratory Jean Mayer-United States Department of Agriculture Human Nutrition Research Center on Aging Tufts University 711 Washington Street Boston MA 02111 USA. Correspondence Kris Richardson. Email Abstract Elevated plasma cholesterol is a heritable trait and a risk factor for the development of cardiovascular disease. Although several major biochemical pathways regulating cholesterol metabolism have been identified questions regarding the details of this regulation remain. In fact common genetic polymorphisms in candidate genes explain only 5 to 7 of variation in high- and low-density lipoprotein cholesterol levels between individuals. This suggests that many of the factors influencing cholesterol metabolism and potentially the etiology of cardiovascular disease are unknown. Here we review recent functional genomic research that combined with results from genomewide association studies provides a powerful tool to identify novel candidate genes relevant to cholesterol metabolism. The role of cholesterol in the etiology of cardiovascular disease Cholesterol is an integral component of lipid membranes in eukaryotic cells that is required for maintaining membrane fluidity and facilitating the trafficking and signaling of membrane-associated proteins. Cholesterol is also a necessary precursor for important metabolites such as steroid hormones bile salts and oxysterols. Several pathways coordinate cholesterol homeostasis in the body 1 . Briefly in the first pathway cells acquire cholesterol primarily through the binding of circulating cholesterol-rich low-density lipoprotein LDL particles to cellular lipoprotein receptors. The receptor-ligand complex is subsequently absorbed into the cell through clathrin-mediated .
