Apolipoprotein E polymorphisms and risk of hypercholesterolemia: a case-control study in a working population from Valencia, Spain

BACKGROUND: The apolipoprotein E (apoE) gene is polymorphic with three comm on alleles (epsilon 2. epsilon 3, epsilon 4) whose allelic frequency and as sociation with lipid levels varies from population to population, The aim o f this study was to estimate the association between these genetic variants and the risk of hypercholesterolemia in a Mediterranean Spanish population . PATIENIS AND METHODS: A case-control study in a working population from Val encia was carried out. A total of 330 cases (148 men and 182 women) with mo derate hypercholesterolemia (total cholesterol > 200 mg/dl or with lipid lo wering treatment) and age range 20 to 60 years, were identified. 330 normoc holesterolemic controls matched by age and sex were selected. From all of t hem data of apoE genotype, body mass index, lipid and lipoprotein levels, s ocioeconomic 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 i n 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 hype rcholesterolemia. After adjustment by age, body mass index, educational lev el, tobacco smoking, alcohol consumption and physical activity the epsilon 2 allele was associated with a lower risk of hypercholesterolemia (odds rat io [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 mod erate hypercholesterolemia in the Mediterranean Spanish population.