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Koroner Kalp Hastalarında PCSK9 E670G ve N425S Gen Varyasyonlarının Etkisinin Türk Toplumunda Değerlendirilmesi
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Koroner Kalp Hastalarında PCSK9 E670G ve N425S Gen Varyasyonlarının Etkisinin Türk Toplumunda Değerlendirilmesi
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Journal Article
Koroner Kalp Hastalarında PCSK9 E670G ve N425S Gen Varyasyonlarının Etkisinin Türk Toplumunda Değerlendirilmesi
2018
Overview
Aim: Coronary artery disease (CAD) due to atherosclerosis is a multifactorial disease resulting from the interaction of numerous genetic and environmental factors. In developed countries, it is among the diseases with highest rates of mortality and morbidity. Proprotein convertase subtilisin/kexin 9 (PCSK9), plays an important role for cholesterol homoeostasis via inducing post-transcriptional degradation of Low-density lipoprotein-Receptor (LDLR).Since PCSK9’s first discovery in 2003, studies focusing on PCSK9 continue without slowing down and now PCSK9 is a candidate as a new therapeutic target in atherosclerosis. However, little is known about the genetic variants of PCSK9 and its influence on Low Density Lipoprotein – cholesterol (LDL-C) in Turkish population. Mutations in the PCSK9 gene have been associated with both hypocholesterolemia and hypercholesterolemia through ‘loss-of-function’ and ‘gain-of-function’ mechanisms, respectively. Our aim was to investigate PCSK9 N425S (rs28362261) and E670G (23968A>G) (rs 505151) gene polymorphisms in regard to their effects on serum lipoprotein level and development of CHD.Method: PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method is used for determination of PCSK9 variants.Findings: In the patient group, frequency of PCSK9 E670G mutant T allele is higher than controls. Our findings indicate that these variants might be an independent risk factors in development of CHD. In the patient group, we observed the PCSK9 E670G normal A allele is associated with increased serum total-cholesterol level.Conclusion: In conclusion we suggest that the PCSK9 gene variants might pose a risk in susceptibility to CHD, since PCSK9 has detrimental effects on serum lipids.
Publisher
Istanbul Gelisim University
Subject
