Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease

R Frikke-Schmidt, BG Nordestgaard, MCA Stene… - Jama, 2008 - jamanetwork.com
Context Low levels of high-density lipoprotein (HDL) cholesterol are inversely related to
cardiovascular risk. Whether this is a causal effect is unclear. Objective To determine
whether genetically reduced HDL cholesterol due to heterozygosity for 4 loss-of-function
mutations in ABCA1 cause increased risk of ischemic heart disease (IHD). Design, Setting,
and Participants Three studies of white individuals from Copenhagen, Denmark, were used:
the Copenhagen City Heart Study (CCHS), a 31-year prospective general population study …