title: Human genetics of HDL: Insight into particle metabolism and function.
abstract: Levels of high-density lipoprotein cholesterol (HDL-C) are inversely related to cardiovascular disease risk and HDL particles possess a variety of anti-atherosclerotic properties. However, several recent clinical trials aimed at raising HDL-C levels have failed to yield the expected improvement in clinical outcomes, highlighting the need for a better understanding of HDL particle function and metabolism. Human genetic studies have proven to be an outstanding source of insight regarding the biology of this complex lipoprotein class. In particular, the study of rare genetic disorders of HDL has identified a number of key players in HDL metabolism, some of which represent current or future therapeutic targets. More recently, genetic association studies have identified a large number of additional genes and proteins involved in HDL metabolism. The purpose of this review is to summarize progress in the study of HDL genetics and how these insights have contributed to our understanding of the metabolic pathways and function of HDL leading to opportunities for the long-elusive HDL-based therapies.
authors.affiliation: Translational Laboratory in Genetic Medicine, Agency for Science Technology and Research, Singapore, Singapore; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address: Liam.Brunham@gmail.com.
authors.forename: Liam R
authors.initials: LR
authors.lastname: Brunham
authors.affiliation: Translational Laboratory in Genetic Medicine, Agency for Science Technology and Research, Singapore, Singapore; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Hayden
mesh_terms: D000818:Animals; D002318:Cardiovascular Diseases / Q000378:metabolism* / Q000628:therapy; D008076:Cholesterol, HDL / Q000235:genetics* / Q000378:metabolism*; D056726:Genetic Association Studies; D005826:Genetics, Medical; D006801:Humans; D020033:Protein Isoforms / Q000378:metabolism
chemical_list: D008076:Cholesterol, HDL; D020033:Protein Isoforms
keywords: Atherosclerosis; Cholesterol; Genetics; HDL; Lipids; Lipoproteins