title: Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia.
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, 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.
authors.affiliation: Laboratory of Molecular Biology, Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Athens, Greece.
authors.forename: Despoina M
authors.initials: DM
authors.lastname: Choumerianou
authors.forename: Sandy
authors.initials: S
authors.lastname: Maumus
authors.forename: John
authors.initials: J
authors.lastname: Skoumas
authors.forename: Christos
authors.initials: C
authors.lastname: Pitsavos
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stefanadis
authors.forename: Sophie
authors.initials: S
authors.lastname: Visvikis-Siest
authors.forename: George V Z
authors.initials: GV
authors.lastname: Dedoussis
mesh_terms: D000328:Adult; D000483:Alleles; D001055:Apolipoproteins B / Q000097:blood* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006115:Greece; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood* / Q000235:genetics*; D050356:Lipid Metabolism; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D001055:Apolipoproteins B