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

Despoina M Choumerianou1, Sandy Maumus, John Skoumas

  • 1Laboratory of Molecular Biology, Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Athens, Greece.

Clinical Chemistry and Laboratory Medicine
|June 17, 2006
PubMed

Insights

Genetic variants influence apolipoprotein B levels in familial hypercholesterolemia (FH). The paraoxonase 2 (PON 2) Cys311 allele impacts total cholesterol and LDL-C, while other gene variants affect apolipoprotein B.

Area of Science:

  • Genetics
  • Biochemistry
  • Cardiovascular Disease

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-C and premature heart disease.
  • FH clinical presentation varies, even with identical LDL receptor (LDLR) gene mutations, suggesting other genetic or environmental influences.
  • Investigating genetic factors is crucial for understanding FH variability.

Purpose of the Study:

  • To explore the association between specific gene polymorphisms and lipid levels in FH patients.
  • To identify genetic variants that may contribute to the variable expression of FH.
  • To evaluate the independent effect of polymorphisms on high lipid concentrations.

Main Methods:

  • Studied 84 FH patients for polymorphisms in PON 2, LPL, PAI-1, FGB, and NOS genes.
  • Analyzed Ser311Cys (PON 2), Asn291Ser (LPL), T11053G (PAI-1), -455 G>A (FGB), and -922 A>G (NOS) variants.
  • Assessed the impact of these polymorphisms on lipid profiles and apolipoprotein B levels.

Main Results:

  • The PON 2 Cys311 allele correlated with elevated total cholesterol, LDL-C, and apolipoprotein B.
  • LPL Asn291, PAI-1 T11053, FGB -455 G, and NOS -922 A alleles were associated with higher apolipoprotein B levels.
  • Multiple genetic variants appear to influence lipid parameters in FH.

Conclusions:

  • Apolipoprotein B levels in FH heterozygotes are likely influenced by several distinct genetic variations.
  • These findings highlight the complex genetic architecture contributing to FH phenotype variability.
  • Further research into these genetic associations can refine FH risk stratification and management.
Abstract

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