I/D polymorphism at the locus for ACE and apo A-I gene promoter polymorphism as risk factors for coronary artery disease in patients with familial hypercholesterolemia.

In our study we searched for an association between the insertion/deletion (I/D) polymorphism at the ACE locus as well as apo A-I promoter polymorphism and coronary artery disease (CAD) in patients with familial hypercholesterolemia (FH). 34 FH patients over 40 years were ascertained; 16 patients with CAD were compared with 18 patients without CAD. There was an excess of DD or ID genotype in FH patients with CAD (OR = 4.9, CI = 1.17-22.17; Fisher exact p = 0.012), however, no association between G to A substitution in the promoter region of the apo A-I gene and CAD was found. Our results suggest that the DD/ID genotype at the ACE gene locus might be an important genetic risk factor for CAD in FH patients.