Background. Apolipoprotein E is a polymorphic protein playing a crucial role in the metabolism of plasma
lipoproteins. Three alleles referred to as e2, e3 and e4 code for three common isoforms of apoE. The most frequent
allele in the population at large is e3 allele. e2 and e4 alleles are connected with lipoprotein disorders as well as with
other diseases. The aim of our study was to establish frequencies of apoE coding alleles in patients with different
types of hyperlipidaemia (HLP) and to reveal differences in their distribution in comparison with the general
Methods and Results. Therefore apoE genotype was assayed in 752 patients with primary HLP and 291 subjects
randomly selected from the general Czech population. Allele frequencies were determined separately in a group of
patients with familial hypercholesterolaemia (FH), polygenic hypercholesterolaemia (PHC), familial combined
hyperlipidaemia (FCH) and in patients with type III. hyperlipidaemia (III).
In patients with HLP a significantly higher frequency of e4 allele than in control subjects was found. In the group
of FH patients frequency of the e2 allele was higher than in control subjects. In patients with PHC a significantly
higher frequency of the e4 allele and lower frequency of the e2 allele were observed. In the group of FCH patients
distribution of e alleles did not differ from the control group. Frequency of the e2 allele in patients with type III.
hyperlipidaemia was significantly higher than in controls.
Conclusions. We conclude that there exist significant differences in frequencies of apoE coding alleles between
patients with primary hyperlipidaemia and a randomly selected population sample. The revealed differences in allelic
distribution suggest that the impact of apoE polymorphism is not uniform in all types of hyperlipidaemia.
hyperlipoproteinaemia, apolipoprotein E, polymorphism, frequency of allele.