Lege Artis Medicinae

[The relationship between genetic polymorphism of apolipoprotein E and atherosclerosis and its relevance with clinical practice]

CSÁSZÁR Albert1

AUGUST 31, 1993

Lege Artis Medicinae - 1993;3(08)

[The lipoprotein metabolism, having crucial role in atherogenesis is regulated by apolipo proteins, lipoprotein receptors and lipidtrans ferase enzymes. The genetic polymorphism of these proteins has been reported to be associated with lipid disorders. Beneath the rare forms (familial hypercholesterolemia, familial defective apo B syndrome) the most important monogenetic dyslipoproteinemia seems to be related to the apolipoprotein E polymorphism. The mean serum cholesterol concentration is influenced by the different apo E phenoytpes (E4 with high, E2 with low cholesterol level). In Hungary, the allele-frequencies (22 0,06, 22 0,80, 34 0,12) and the effect of apo E alleles on cholesterol concentration are very similar to the results found in other populations. Apo E polymorphism shows association with 1. hyperlipoproteinemia type III (E 2/2); 2. dyslipoproteinemia in familial hypercholeste rolemia (E2); 3. premature coronary heart disease (E4); 4. hypercholesterolemia in some populaton (E4); 5. insulin dependent diabetes mellitus in the Hungarian population (E2); 6. the rate of intestinal cholesterol absorption in some population (E4 with higher capacity). In such conditions the determination of apo E phenotype or genotype is very important to reveal the risks of the atherosclerosis and to asses the optimal hypolipidemic therapy.]

AFFILIATIONS

  1. Semmelweis Orvostudományi Egyetem III. Belgyógyászati Klinika Budapest

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