Simultaneous mutations (A/G(-418) and C/T(-384)) in the apo(a) promoter of individuals with low Lp(a) levels.

High plasma levels of Lp(a), a low-density lipoprotein particle with an attached apo(a), are associated with the development of atherosclerosis. We present two simultaneous mutations in the apo(a) promoter (A/G(-418) and C/T(-384)) in healthy Indians with a low Lp(a) level (<5 mg/dl). No such mutations were detected in coronary artery disease positive individuals with very high Lp(a) levels (>200 mg/dl). The mutations described here might be useful in understanding the transcriptional regulation of the apo(a) gene. Copyright 2000 Academic Press.