Genetic effect of apolipoprotein(a) and apolipoprotein E polymorphisms on plasma quantitative risk factors for coronary heart disease in American Black women Original Research Article

The distributions of plasma total cholesterol, apolipoproteins A-I and B and lipoprotein(a) levels as well as genetic typings of apolipoprotein(a) and apolipoprotein E were determined in a randomly selected sample of American Black women (mean age 22.2 ± 6.5 years). Mean plasma levels of cholesterol, apolipoprotein A-I, apolipoprotein B and lipoprotein(a) were 184.5 ± 3.0 mg/dl, 138.0 ± 3.1 mg/dl, 79.5 ± 1.8 mg/dl and 24.5 ± 1.5 mg/dl, respectively. Plasma lipoprotein (a) levels correlated significantly with apolipoprotein B and cholesterol. The contribution of apolipoprotein (a) and apolipoprotein E polymorphisms in affecting these quantitative traits was evaluated. The apolipoprotein(a) locus was extremely polymorphic with 27 alleles, while the 3 common alleles were observed in the apolipoprotein E gene. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.094, 0.674 and 0.232, respectively. An inverse relationship was observed between the size of apolipoprotein(a) isoforms and lipoprotein(a) levels (r = 0.37; P = 0.0001). The apolipoprotein E polymorphism revealed a significant genotypic effect on apolipoprotein B (P = 0.0008) and cholesterol (P = 0.005) levels; these concentrations were lower in the APOE 2–3 genotype and higher in the 3–4 and 4–4 genotypes compared with the common 3–3 genotype. The apolipoprotein E polymorphism explained 15.8% and 6.3% of the phenotypic variance in apolipoprotein B and cholesterol levels, respectively. This study demonstrates that genetics play an important role in determining quantitative risk factors for coronary heart disease among American Black women.