Family-Based Association Studies of Lipid Gene Polymorphisms in Coronary Artery Disease

Dysfunction of lipid-metabolizing proteins is implicated in the pathogenesis of coronary artery disease. Single nucleotide polymorphisms in genes that encode sterol regulatory binding protein-1a, adenosine triphosphate binding cassette-A1, hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein were assessed as potential markers of disease susceptibility in a family-based study of 1,012 patients from 386 families. Association between single nucleotide polymorphisms and coronary artery disease was tested by the combined transmission disequilibrium test/sib transmission disequilibrium test and pedigree disequilibrium test. After Bonferroni’s correction, the pedigree disequilibrium test demonstrated significant excess transmission (p <0.0083) to affected patients of the hepatic lipase −514 T allele, which suggests that this may constitute a novel disease-susceptibility locus.