Özet:

Coronary Artery Disease (KAH) is a multifactorial disease caused by interaction of various genetic and environmental factors. It is due to high mortality and morbidity in developed countries. Proprotein subtilisine type-9 (PCSK9) plays an important role in cholesterol hemostasis by inducing post-transcripting degradation of low-density lipoprotein-receptor (LDLR). Since the first discovery of PCSK9 in 2003, the studies have continued without cuts and now anti-PCSK9 monoclonal antibodies have been presented as a new target in the treatment of atherosclerosis. But in the Turkish population there is very little information about the genetic variations of PCSK9 and its effect on LDL-cholesterol (LDL-K). Mutations in the PCSK9 gene are associated with hypocholesterolemia and hypercholesterolemia, respectively, through function loss and function gain mechanisms. Our study aims to determine the effects of N425S (rs28362261) and E670G (23968A>G) (rs 505151) gen polymorphisms associated with PCSK9 function gaining on serum lipoprotein levels and KAH development. Method: PCR-RFLP (Polymerase Chain Reaction-Restriction Part Length Polymorphism) method has been used to determine the variants of 64 patients and 50 controls PCSK9 E670G and N425S. Results: PCSK9 E670G mutant T alelial frequency control group was observed higher in coronary artery patients. Our data suggests that this variant may be an independent risk factor in the development of coronary heart disease. In coronary artery patients, PCSK9 E670G was found to be associated with a high serum total cholesterol level of normal A. In PCSK9 N425S polymorphism distribution, only NN normal homozigot genotype was observed in patients and control groups. The result: The E670G variance in the PCSK9 gene shows that its negative effects on the serum lipid profile may pose a risk for the development of coronary heart disease.

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