EFFECT OF C54Y POLYMORPHISM OF THE ABCG8 TRANSPORTER GENE ON HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVELS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA

Introduction. Familial hypercholesterolemia (FH) carries a high risk of mortality from coronary heart disease. The interaction between genes and diet is one of the factors determining plasma lipid response to dietary interventions. However, the possible influence of the genetic-environmental interaction on plasma cholesterol levels is not well characterized in patients with FH. Consequently, the aim of this study was to analyze whether mutations in the ABCG transporter genes influence lipid response to distinct diets. Methods. We conducted a dietary intervention of four periods of 28 days each in 30 patients with FH under stable statin treatment following a randomized, crossover, Latin square design. The cholesterol and sitosterol content of the four diets differed (from <1 g to 2.5 g of sitosterol/day and from < 150 mg to 300 mg of cholesterol/day). Results. An effect of the ABCG8 genotype was found. Patients homozygous for the C54Y (AA) mutation had higher levels of high-density lipoprotein cholesterol (HDL-C) and apoAl than carriers of the normal allele (56 mg/dl +/- 14 mg/dl vs 43 mg/dl +/- 8 mg/dl, P<0.05) with fat-poor diets. Conclusions. In patients with FH the polymorphisms analyzed did not influence lipid response to the diets studied. However, the C54Y polymorphism of the ABCG8 gene did influence plasma HCL-C and apoAl levels.