Introduction: Polymorphisms in the cholesterol ester transfer protein (CETP) gene and apolipoprotein AI (apo AI) gene are identified as the most common genetic factors influencing high-density lipoprotein cholesterol (HDL cholesterol) levels. Low HDL cholesterol is an important risk factor for cardiovascular disease. We investigated the effect of the TaqIB polymorphism of the CETP gene and the 75G/A polymorphism of the apo AI gene on the HDL cholesterol concentration in a sample of Polish adults.
Material and methods: A total of 621 subjects, 414 women and 207 men, were included in this study. Lipid levels were measured using standard protocols, and apolipoprotein AI was determined by immunoturbidimetric assay. CETP and apo AI genotyping was performed using a restriction fragment length polymorphism based method.
Results: Significantly lower HDL cholesterol concentrations were found in B1B1 homozygotes than in carriers of the B2 allele of the TaqIB polymorphism in the CETP gene among both men and women. In GG homozygotes of the 75G/A polymorphism in the apo AI gene lower HDL cholesterol levels were observed, but the difference did not reach statistical significance. A statistically significant association of low HDL cholesterol (< 25th percentile) with CETP genotypes was found in women (p < 0.0001) and in men (p = 0.0368).
Conclusions: These data demonstrate a significant impact of the TaqIB polymorphism in the CETP gene on HDL cholesterol levels in the studied Polish population, while the effect of the 75G/A polymorphism in the apo AI gene appears not to be significant.
Keywords: apolipoprotein AI; cholesterol ester transfer protein; gene polymorphism; high-density lipoprotein cholesterol.