Faculty of Medicine

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    Association of the rs1799750 Matrix Metalloproteinase-1 Gene Polymorphism and Coronary Artery Disease in Young Macedonian Population
    (Macedonian Association of Anatomists and Morphologists, 2024-10-23)
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    Stankovic, Svetlana
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    Pakovski, Kiril
    Coronary artery disease (CAD) is very complex disease arising from close interaction of many risk-factors as well as presence of many comorbidities. Pathophysiology mechanisms may be different and encompass endothelial dysfunction, impaired lipid metabolism, chronic inflammation, thrombosis, and mechanisms associated with tissue maintenance and remodeling. In this research we aim to investigate the association between rs1799750 (-1607 1G/2G) matrix metalloproteinase – 1 (MMP-1) gene polymorphism and CAD in young Macedonian population. This is an observational, genetic-association study of cases and controls including 57 participants divided into two groups. The first is the group with positive coronary angiography (CA) finding (n=34) and the second is the group with negative CA finding (controls, n=34 participants). All of them underwent molecular and genetic analyses after performed CA. Complete comparison of the frequencies of genotypes and alleles of the rs1799750 MMP-1 gene polymorphism was used for statistical analysis. Calculations were performed using Chi-square test (x2-test) and Fisher's exact test for analysis of the genotype and allele frequencies of the gene polymorphism using five different models. The Cochran-Armitage trend test was used to analyse the allelic frequencies with the allelic and additive model. The statistical analyses were performed using XLSTAT 2016, GenAIEx 6.5 and Microsoft Excel 2016 software. According to the genotypic model, carriers of the heterozygous 1G/2G genotype have 2,8 times higher probability whereas carriers of the 2G/2G genotype have 7,389 times higher probability for development of CAD in comparison to the reference carriers of 1G/1G, respectively (p<0,05). The dominant model has also confirmed that genotype carriers with at least one 2G allele have 4,521 times higher probability for CAD in comparison to homozygous 1G/1G genotype carriers (p<0,05). According to the recessive model, participants with homozygous 2G/2G genotype have statistically significant 3,589 times higher probability for CAD in comparison to participants with at least one 1G allele (p<0,05). Allelic model also proved that carriers of the 2G allele have 3 times higher chances for development of CAD than the carriers of the 1G allele (p<0,05). The last, additive model, confirmed that the risk increases with the number of present 2G allele. Results from our study clearly show that there is statistically significant genetic association of the rs1799750 MMP-1 gene polymorphism with significant CAD in young Macedonian population. More specifically, presence of genotype 2G/2G as well as allele 2G leads to statistically significant increase of the probability for CAD.
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    Association of Killer Cell Immunoglobulin-Like Receptor Genes with Pandemic Influenza A (H1N1)pdm09 Infection in Critically Ill Macedonian Patients
    (Scientific Foundation SPIROSKI, 2012)
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    Eli Djulejic
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    Bisera Jefremovska
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    Haris Babacic
    Background: Infection by the pandemic influenza A (H1N1)pdm09 virus results in significant pathology disease in many cases in different populations worldwide. The natural killer (NK) cells are among the major effectors important in early innate immune responses to viral infections, interacting with host cells through their activating or inhibiting receptors. Aim: The aim of this study was to analyze Killer Ig-Like Receptor (KIR) gene polymorphisms in critically ill Macedonian patients with pandemic influenza A (H1N1)pdm09 infection. Material and Methods: The studied sample consists of 63 critically ill Macedonian patients with pandemic influenza A (H1N1)pdm09 infection. The population genetics analysis package, Arlequin, was used for analysis of the data. Results: We found that all 16 KIR genes were observed in the studied individuals and framework genes (KIR3DL3, KIR3DP1, KIR2DL4, and KIR3DL2) were present in all individuals. The results of tested linkage disequilibrium (LD) among KIR genes demonstrated that KIR genes present a wide range of linkage disequilibrium. Comparison of KIR gene frequencies between critically ill H1N1/09 Macedonian patients and healthy subjects reveals statistically significant difference for frequency of KIR2DL1 (F=1 in the patients group, and 0.94 in the control group, p=0.045). Conclusion: We did not found any significant association of all 16 KIR genes or KIR genotypes with critically ill (H1N1)pdm09 Macedonian patients, except for the KIR2DL1.
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    DESCRIPTIVE ANALYSIS OF CLINICAL AND DEMOGRAPHIC DATA OF SELECTED GROUP OF PATIENTS WITH PULMONARY EMBOLISM
    (Macedonian Association of Anatomists and Morphologists, 2020)
    Baloski Marjan
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    Hasan Taner
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    Nedeska Minova Natasa
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    Pulmonary embolism is a relatively common clinical entity accompanied with a high mortality and is a perplexing diagnostic and therapeutic problem. Current research indicates that pulmonary embolism has a multifactorial and complex pathogenesis. Genetic factors have been under extensive research during the past two decades. The aim of this study was to present a descriptive analysis of demographic and clinical data obtained thus far from 31 patients with documented pulmonary embolism. In our patient group, almost half of the patients were non-smokers and all denied alcohol consumption. More than 80% of the patients had no history of previous pulmonary embolism and no thrombophlebitis, but nearly two thirds of all patients had deep vein thrombosis. A history of acute myocardial infarction existed in about 6.5% of patients, as well as ischemic stroke. Arterial hypertension was present in about one-third of patients, dyslipidemia in 42%, and type 2 diabetes in approximately 13%. Only one patient had an anamnestic data for chronic renal disease, while none had a history of hepatic disease. The results of the analysis of demographic-clinical data of patients are concordant with the results of the previously published studies.