Studies of common variations in two candidate genes of dyslipidemia and coronary artery disease

Abstract

Acyl-CoA: cholesterol Acyltransferase-2 (ACAT2) and lipoprotein lipase (LPL) are two candiadte genes for coronary artery disease (CAD). The purpose of this study is to determine the influence of some genetic variants in this two genes on CAD susceptibility and on plasma lipid traits.A total of 14 polymorphisms were identified in ACAT2 using denaturing high performance liquid chromotography (DHPLC). We found these three ACAT2 polymorphisms showed significant ethnic variations in allele frequencies as well as significantly different effects on plasma lipid levels and CAD risk. Functional study suggested that Glu14Gly polymorphism might be very important to ACAT2 protein expression or stability. In addition, the study on LPL showed that the most prevalent haplotype CTC of three LPL polymorphisms, IVS6+1594C>T, IVS8+483T>G, and c.1342C>G, was consistently associated with increased CAD susceptibility in male Chinese and Indians living in Singapore.