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.
Choumerianou
Despoina M
DM
Laboratory of Molecular Biology, Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Athens, Greece.
Maumus
Sandy
S
Skoumas
John
J
Pitsavos
Christos
C
Stefanadis
Christodoulos
C
Visvikis-Siest
Sophie
S
Dedoussis
George V Z
GV
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*
D001055:Apolipoproteins B