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

  • Despoina M. Choumerianou , Sandy Maumus , John Skoumas , Christos Pitsavos , Christodoulos Stefanadis , Sophie Visvikis-Siest and George V.Z. Dedoussis
Published/Copyright: September 21, 2011

Abstract

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, β-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.

Clin Chem Lab Med 2006;44:799–806.


Corresponding author: George Dedoussis, PhD, Assistant Professor of Biology, Laboratory of Molecular Genetics, Department of Nutrition and Dietetics, Harokopio University of Athens, 70 El. Venizelou St., 17671 Kallithea-Athens, Greece Phone: +30-210-9549304, Fax: +30-210-9577050,

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Received: 2006-1-31
Accepted: 2006-3-27
Published Online: 2011-9-21
Published in Print: 2006-7-1

©2006 by Walter de Gruyter Berlin New York

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