Background: Hypercholesterolemia is considered a major risk factor for pancreatitis, atherosclerosis and coronary heart disease. Cholesteryl ester transfer protein gene polymorphisms are known to be associated with changes in lipid levels. We investigated the association between a polymorphism in the CETP gene (D442G) with plasma lipid levels and CETP activity in patients with hypercholesterolemia.

Methods: This case/control study that be done in Hamadan university of medical sciences (from October 2008 to September 2009), included 102 patients with hypercholesterolemia and 200 healthy individuals. Polymerase chain reaction and restriction fragment length polymorphisms were used to determine genotypic distribution and allelic frequencies of polymorphisms. The plasma CETP activity was measured by a kit in a fluorescence spectrometer. Lipid concentrations were measured by routine biochemical and enzymatic assays.

Results: Plasma cholesteryl ester transfer protein activity was significantly higher in the cases than the controls (P<0.05). The genotypic and allelic frequencies for this polymorphism were not statistically different between the patients with hypercholesterolemia and the controls (in controls: DD 96%, DG 4%, GG 0% and in cases: DD 86%, DG 10%, GG 4%), (P>0.05). Plasma HDL-C, LDL-C and TC were higher in both groups with GG and DG genotypes than with DD genotype, whereas serum CETP activity was lower in GG genotype compared with other genotypes (GD or DD), (P<0.05).

Conclusion: The results showed that D442G polymorphism of CETP gene was associated with changes in lipid profile and plasma CETP activity in the selected population and it might have a role in contributing to a genetic risk for developing coronary artery disease.