Background/aims: The distribution of the genetic vanations at the apo E locus differs among populations. Previous studies have demostrated that these genetic variations contribute to the serum lipid level, and this effect might be gender specific. In this study we have determined the frequency of apo E major isoforms (E2, E3 and E4) in a population of Spanish children and the influence of this genotype in serum lipid levels.

Subjects and instrumentations: Apo E genotype and lipid profile(total cholesterol, LDL-C, HDL-C, triglycerides, apo A1 and apo B) have been determined in 191 Spanish children (110 boys and 81 girls), aged 8-15 years. Apo E genotype was analyzed by PCR and subsequent digestion of the amplified product with the endonuclease Hnal.

Results: The relative frequency of the alleles (ε3, ε4 and ε2) was 0.87, 0.09 and 0.04 respectively, and the frequency of the genotypes (E3/E2, E3/E3 and E3/E4) was 0.07, 0.76 and 0.15. No difference was observed in the genotypic distribution of Apo E estimated separately in boys and girls. In the female group, inviduals with the E3/E4 genotype had the highest serum level of total cholesterol, LDL-C and apo B; those with E3/E2 had the lowest levels and girls with E3/E3 had intermediate levels (p=0.004). No difference in serum profile was found between the diferent genotypes in the male group.

Conclusion: 1) Our results confirm the lower prevalence of theε4 allele observed in the Spanish population as compared to other Caucasian groups. 2) We have found differences in the lipid profile related to apo E isoforms, only in the female group.