Proprotein convertase subtilisin/kexin type 9 () is an enzyme in the family of proprotein convertases implicated in lipid metabolism and is a significant genetic risk factor in cardiovascular diseases among various populations. This study explored the correlation between the alleles of the rs505151 (E670G) locus of the gene and its expression levels with coronary artery disease (CAD) risk in Egyptian patients with type 2 diabetes mellitus (T2DM). A case-control study was performed on 112 lean subjects compared to 100 T2DM patients without CAD and 84 T2DM patients with CAD to investigate the relationships among expression levels, the E670G (rs505151) gene variant, lipid concentrations, and CAD risk in an Egyptian diabetic population. A restriction fragment length polymorphism-polymerase chain reaction (PCR) assay was used to assess the gene polymorphism, and mRNA expression was determined by quantitative real-time PCR. The prevalence of the E670G (rs505151) AG genotype in diabetics with CAD was significantly greater than the other two groups. The gene expression levels in diabetics with CAD were significantly greater than the other two groups. G allele carriers (AG+GG) had a higher relative expression than A allele carriers. relative expression levels and the E670G (rs505151) AG genotype are CAD risk factors among Egyptian diabetics and are linked positively to the atherogenic index of plasma.
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http://dx.doi.org/10.1089/gtmb.2021.0010 | DOI Listing |
Nucleosides Nucleotides Nucleic Acids
February 2024
Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Recent reports showing that neo-atherosclerosis formation in stented coronary artery is characterized by the accumulation of lipid-laden macrophages within the neointima has strengthened the possibility that elevated low-density lipoprotein (LDL)-cholesterol may be a risk factor for in-stent restenosis (ISR). Protein Convertase Subtilisin/Kexin-9 (PCSK9) protein plays an important role in cholesterol metabolism by degrading of LDL receptors. The gain-of-function (rs505151) mutation of the gene is a well-known genetic risk factor for hypercholesterolemia.
View Article and Find Full Text PDFFront Clin Diabetes Healthc
November 2023
CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.
Objective: To assess the distribution of PCSK9 E670G genetic polymorphism and PCSK9 levels in patients with Coronary Artery Disease (CAD) and Heterozygous Familial Hypercholesterolemia (HeFH), based on the presence of type 2 Diabetes Mellitus (T2DM).
Methods: The study included 201 patients with chronic CAD, including those with HeFH (n=57, group I) and without it (n=144, group II). DLCN was used to diagnose HeFH.
Genet Test Mol Biomarkers
September 2021
Medical Biochemistry Department, and Faculty of Medicine, University of Zagazig, Zagazig, Egypt.
Proprotein convertase subtilisin/kexin type 9 () is an enzyme in the family of proprotein convertases implicated in lipid metabolism and is a significant genetic risk factor in cardiovascular diseases among various populations. This study explored the correlation between the alleles of the rs505151 (E670G) locus of the gene and its expression levels with coronary artery disease (CAD) risk in Egyptian patients with type 2 diabetes mellitus (T2DM). A case-control study was performed on 112 lean subjects compared to 100 T2DM patients without CAD and 84 T2DM patients with CAD to investigate the relationships among expression levels, the E670G (rs505151) gene variant, lipid concentrations, and CAD risk in an Egyptian diabetic population.
View Article and Find Full Text PDFJ Am Coll Cardiol
June 2019
The Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; The Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
Background: Reduced low-density lipoprotein (LDL) cholesterol due to inhibition of proprotein convertase subtilisin/kexin 9 (PCSK9) reduces cardiovascular events and may therefore also reduce cardiovascular and all-cause mortality.
Objectives: This study tested the hypothesis that genetically low LDL cholesterol due to PCSK9 variation is causally associated with low cardiovascular and all-cause mortality in the general population.
Methods: A total of 109,566 individuals from the Copenhagen General Population Study and the Copenhagen City Heart Study were genotyped for PCSK9 R46L (rs11591147), R237W (rs148195424), I474V (rs562556), and E670G (rs505151).
Atherosclerosis
October 2018
Republican Specialized Center of Cardiology (RSCC) Ministry of Health of Republic Uzbekistan, Tashkent, Uzbekistan.
Background And Aims: We aimed to assess the disease burden and to study the molecular genetic characteristics of heterozygous familial hypercholesterolemia (HeFH) patients within the Uzbek population to develop a program of early disease detection and effective treatment measures.
Methods: 201 patients were included in the study, of whom 57 with chronic stable coronary artery disease (SCAD) and HeFH, and 144 with SCAD without HeFH belonging to the control group, and divided into two subgroups: A, statin free before the study (n = 63) and B (n = 81), who took statin outpatiently. We applied the Dutch Lipid Clinic Network Criteria (DLCN) to diagnose HeFH.
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