Apolipoprotein E polymorphism in men and women from a Spanish population: allele frequencies and influence on plasma lipids and apolipoproteins

• Published in: Atherosclerosis 1999-11, Vol.147 (1), p.167-176
• Main Authors: Gómez-Coronado, Diego, Álvarez, Juan José, Entrala, Alfredo, Olmos, José Marı́a, Herrera, Emilio, Lasunción, Miguel Ángel
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Apolipoprotein E polymorphism; Apolipoproteins; Apolipoproteins - blood; Apolipoproteins E - genetics; Biological and medical sciences; Cardiology. Vascular system; Cholesterol; Cholesterol - blood; Coronary heart disease; Female; Gender; Genetics, Population; Heart; Humans; Lipids - blood; Lipoproteins; Lipoproteins - blood; Lipoproteins, VLDL - blood; Male; Medical sciences; Middle Aged; Phenotype; Polymorphism, Genetic; Sex Factors; Spain; Triglyceride; Triglycerides - blood
• ISSN: 0021-9150; 1879-1484
• DOI: 10.1016/S0021-9150(99)00168-9

The apolipoprotein (apo) E phenotype and its influence on plasma lipid and apolipoprotein levels were determined in men and women from a working population of Madrid, Spain. The relative frequencies of alleles ε2, ε3 and ε4 for the study population ( n=614) were 0.080, 0.842 and 0.078, respectively. In men, apo E polymorphism was associated with variations in plasma triglyceride and very low-density lipoprotein (VLDL) lipid levels. It was associated with the proportion of apo C-II in VLDL, and explained 5.5% of the variability in the latter parameter. In women apo E polymorphism was associated with the concentrations of plasma cholesterol and low-density lipoprotein (LDL) and high-density lipoprotein (HDL) related variables. The allelic effects were examined taking allele ε3 homozygosity as reference. In men, allele ε2 significantly increased VLDL triglyceride and VLDL cholesterol concentrations, and this was accompanied by an increase of the apo C-II content in these particles. Allele ε4 did not show any significant influence on men's lipoproteins. In women, allele ε2 lowered LDL cholesterol and apo B levels, while allele ε4 increased LDL cholesterol and decreased the concentrations of HDL cholesterol, HDL phospholipid and apo A-I. These effects were essentially maintained after excluding postmenopausal women and oral contraceptive users from the analysis. In conclusion: (1) the population of Madrid, similar to other Mediterranean populations, exhibits an underexpression of apo E4 compared to the average prevalence in Caucasians, (2) gender interacts with the effects of apo E polymorphism: in women, it influenced LDL and HDL levels, whereas in men it preferentially affected VLDL, and (3) allele ε2 decreased LDL levels in women, while it increased both VLDL lipid levels and apo C-II content in men, but, in contrast to allele ε4, it did not show an impact on HDL in either sex.