Decreased Bone Mineral Density in Subjects Carrying Familial Defective Apolipoprotein B-100

Context: Although numerous epidemiologic studies have documented associations between osteoporosis and cardiovascular disease, the mechanisms underlying this association remain to be clarified. One hypothesis is that hyperlipidemia may be a common predisposing factor to both atherosclerotic heart disease and bone fragility. Objective: To evaluate this, we compared bone mineral density (BMD) between subjects with and without the R3500Q APOB mutation, the cause of familial defective apolipoprotein B-100, which has been previously shown to markedly increase low-density lipoprotein cholesterol (LDL-C). We hypothesized that R3500Q carriers would have lower BMD due to lifetime, elevated LDL-C. Design: This was a a cross-sectional study in the Old Order Amish (OOA) population. Participants: The R3500Q APOB mutation is present at a high frequency (∼6% vs