Submitted on January 20, 2004
Revised on March 15, 2004
Accepted on March 25, 2004
Genetics of LDL particle heterogeneity: From genetic epidemiology to DNA-based variations
Yohan Bossé, Louis Pérusse, and Marie-Claude Vohl
Lipid Research Center, Laval University, Ste-Foy, Québec G1V 4G2
Corresponding Author: marie-claude.vohl{at}crchul.ulaval.ca
Substantial evidences suggested that small, dense LDL particles are associated with an increased risk of coronary heart disease. This disease-related risk factor is recognized to be under both genetic and environmental influences. Several studies have been conducted to elucidate the genetic architecture underlying this trait and a review of this literature seems timely. The methods and strategies employed to determine its genetic component and to identify the genes have greatly changed throughout the years owing to the progress made in genetic epidemiology and the influence of the Human Genome Project. Heritability studies, complex segregation analyses, candidate gene linkage and association studies, genome-wide linkage scans and animal models are all part of the arsenal to hunt-down the susceptibility genes. The compilation of these studies clearly revealed the complex genetic nature of LDL particles. This work is an attempt to summarize the growing evidence of genetic control on LDL particle heterogeneity with the aim of providing a concise overview in one read.