Choumerianou_2006_Clin.Chem.Lab.Med_44_799

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.