engleski

Genetic factors of atherosclerosis in Croatia

Hypercholesterolemia is one of the most important risk factors for development of atherosclerosis. It occurs as a consequence of one or more concurrent genetic disorders which change the LDL-receptor-mediated catabolism of atherogenic lipoproteins. This work presents the first results of a study of molecular basis of hypercholesterolemia conducted in Croatia. The study included 416 hypercholesterolemic subjects with total cholesterol and LDL-cholesterol values of &ge 6.7 mmol/L and &ge 4.9 mmol/L, respectively. The presence of molecular changes in LDL-receptor gene was examined by the PCR-SSCP (single strand conformation polymorphism) method, while the presence of Apo B 3500 mutation was examined by the PCR-RFLP (restriction fragment length polymorphism) method. Results show that 18.8% of hypercholesterolemic patients have one or more mutations on the LDL-receptor gene. Only one case of hypercholesterolemia caused by Apo B 3500 mutation has been found so far in Croatian population. In addition to clinical application, results of this study contribute to establishment of the "gene map" of risk factors for atherosclerosis in Croatia and indirectly influence the procedures of primary and secondary prevention of cardiovascular diseases.

genetics; atherosclerosis

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