The apoAI-CIII-AIV gene cluster

The relationship between variations in the apoAI-CIII-AIV gene cluster and plasma lipid traits has been recognized for at least 15 years. Most studies have been focused upon the association between plasma triglycerides and a genetic variation present in the 3' untranslated region of the apoC-III gen e (SstI polymorphism). Although not all studies showed similar results, thi s variant is most consistently found in association with plasma triglycerid es. The other most interesting DNA variant is the mutation present in the p romoter region of the apo A-I gene at position -75 (Msp-AI polymorphism), w hich has been associated with differences in plasma apoA-I and HDL-choleste rol levels. In this review, we will discuss the most frequent occurring gen etic variants in the apoAI-CIII-AIV gene cluster and their impact on plasma lipid traits and associations with increased risk on developing coronary a rtery disease. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.