MedGen

High density lipoproteins (HDLs) are antiatherogenic lipoproteins that have a major role in transporting cholesterol from peripheral tissues to the liver, where it is removed. Epidemiologic studies show that low levels of high density lipoprotein cholesterol (HDLC; see 604091) are associated with an increased risk of coronary heart disease and an increased mortality rate. HDLC levels are influenced by several genetic and nongenetic factors. Nongenetic factors include smoking, which decreases the HDLC level. Exercise and alcohol increase HDLC levels. Decreased HDLC is often associated with other coronary heart disease risk factors such as obesity, hyperinsulinemia and insulin resistance, hypertriglyceridemia, and hypertension. Genetic Heterogeneity of High Density Lipoprotein Cholesterol Level Quantitative Trait Loci See also HDLCQ2 (607053), mapped to 8q23; HDLCQ3 (607687), mapped to 16q24; HDLCQ4 (610239), mapped to 4q32; HDLCQ5 (610761), mapped to 3q24-q26; HDLCQ6 (610762), mapped to 12q24; HDLCQ7 (618979), caused by variation in the EDN1 gene (131240) on 6p24 (603570); HDLCQ10 (143470), caused by mutation in the CETP gene (118470) on 16q13; HDLCQ11 (238600), caused by mutation in the LPL gene (609708) on 8p21; HDLCQ12 (612797), caused by mutation in the LIPC gene (151670) on 15q21; and HDLCQ14 (605201), mapped to 11q23. A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ9, was thought to be due to a variant in the PLTP gene, but that variant has been reclassified as a polymorphism (172425.0001). A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ8, was thought to be due to a variant in the VNN1 gene, but that variant has been reclassified as a polymorphism (603570.0001). A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ13, was thought to be due to a variant in the ABCA1 gene, but that variant has been reclassified as a polymorphism (600046.0024). [from OMIM]