Comparison of apolipoprotein E polymorphism and other atherosclerotic risk factors in two Portuguese populations - The influence of insularity

Abstract

The main objective of this study was to investigate the apolipoprotein (apo) E genotypes in Portuguese populations from mainland (Lisbon city) and from San Miguel Island, Azores' Archipelago (Ponta Delgada city) and to look for differences between these particular sites in apparently healthy subjects. Also, subjects with clinical diagnosis of atherosclerotic disease were investigated in San Miguel Island. In Lisbon, the genotypes distribution was: ε3/ε3 > ε3/ε4 > ε2/ε3 > ε4/ε4 while that, for Ponta Delgada and regardless the health condition, was: ε3/å3 > ε2/ε3 > ε3/ε4. Within Ponta Delgada control group, females and males had distinct genotype frequencies. The most common atherosclerotic risk factors as body mass index, blood hypertension and serum lipid parameters, presented some differences among the allelic subgroups of apo E. The major conclusions were: 1) an apparent influence of insularity in apo E polymorphism was observed; 2) both the high risk genotypes ε/ε2 and ε2/ε4 were not found, even in patients; 3) curiously, the genotypes proportion in females was not homogenous among the three groups.