Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia

Background: Familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein-cholesterol (LDL-C) concentrations, which frequently gives rise to premature coronary artery disease. The clinical expression of FH is highly variable, even in patients carrying the same LDL receptor ( LDLR) gene mutation. This variability may be due to environmental and other genetic factors. Methods: We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen activator inhibitor-1 (PAI-1) T11053G, beta-fibrinogen (FGB)-455 G > A and nitric oxide synthase gene ( NOS) - 922 A > G polymorphisms in 84 patients with FH. The effect of polymorphisms as independent factors of high lipid values was evaluated. Results: The PON 2 Cys311 allele was correlated with high total cholesterol and LDL-C and apolipoprotein B levels, while LPL Asn291, PAI-1 T11053, FGB - 455 G and NOS - 922 A alleles were correlated with high apolipoprotein B levels. Conclusions: These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.