Background: The apolipoprotein E (apoE) gene is polymorphic with three common alleles (epsilon 2, epsilon 3, epsilon 4) whose allelic frequency and association with lipid levels varies from population to population. The aim of this study was to estimate the association between these genetic variants and the risk of hypercholesterolemia in a Mediterranean Spanish population.
Patients and methods: A case-control study in a working population from Valencia was carried out. A total of 330 cases (148 men and 182 women) with moderate hypercholesterolemia (total cholesterol > 200 mg/dl or with lipid lowering treatment) and age range 20 to 60 years, were identified. 330 normocholesterolemic controls matched by age and sex were selected. From all of them data of apoE genotype, body mass index, lipid and lipoprotein levels, socioeconomic and life-style variables were obtained.
Results: The epsilon 2 allele frequency was statistically lower in cases (0.033) than in controls (0.086). The epsilon 4 allele frequency was higher in cases (0.115) than in controls (0.039). In the crude logistic regression analysis, the apoE polymorphism was related (p < 0.001) to the risk of hypercholesterolemia. After adjustment by age, body mass index, educational level, tobacco smoking, alcohol consumption and physical activity the epsilon 2 allele was associated with a lower risk of hypercholesterolemia (odds ratio [OR] = 0.36; 95% confidence interval (CI): 0.20-0.64), and the epsilon 4 allele was associated with a higher risk (OR = 3.04; 95% CI: 1.82-5.06).
Conclusions: The apoE genotype was significantly related to the risk of moderate hypercholesterolemia in the Mediterranean Spanish population.