Publications by authors named "Jaroslav Hubacek"

Article Synopsis
  • - The study investigates the relationship between the FTO gene polymorphism (specifically rs17817449) and COVID-19 mortality, suggesting that this gene could influence how individuals respond to the virus due to its role in viral viability.
  • - Researchers analyzed data from 5,233 individuals aged 63-87, finding that GG homozygotes had a significantly higher risk of death from COVID-19 compared to those with at least one T allele (odds ratio = 2.01, P <0.01).
  • - The findings indicate that variations in the FTO gene are a notable factor in predicting mortality from COVID-19, particularly in Caucasian populations, while showing no impact on deaths from other causes.
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Article Synopsis
  • The study examines the complex associations between cardiovascular risk factors and vascular health in individuals with type 1 diabetes (T1D), highlighting differences when compared to type 2 diabetes.
  • It involved a cross-sectional analysis of various vascular parameters in T1D patients under 65 years old, assessing factors like ankle-brachial index (ABI) and kidney health indicators.
  • Results indicated that pulse pressure significantly correlated with adverse vascular outcomes, while lipid factors mostly impacted renal health, with variations based on sex and genetic traits, specifically regarding the Cx37 gene polymorphism.
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Background: The highest mortality and morbidity worldwide is associated with atherosclerotic cardiovascular disease (ASCVD), which has in background both environmental and genetic risk factors. Apolipoprotein L1 (APOL1) variability influences the risk of ASCVD in Africans, but little is known about the APOL1 and ASCVD in other ethnic groups.

Methods: To investigate the role of APOL1 and ASCVD, we have genotyped four (rs13056427, rs136147, rs10854688 and rs9610473) APOL1 polymorphisms in a group of 1541 male patients with acute coronary syndrome (ACS) and 1338 male controls.

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This study aimed at understanding the predictive potential of genetic risk scores (GRS) for diabetic kidney disease (DKD) progression in patients with type 2 diabetes mellitus (T2DM) and Major Cardiovascular Events (MCVE) and All-Cause Mortality (ACM) as secondary outcomes. We evaluated 30 T2DM and CKD GWAS-derived single nucleotide polymorphisms (SNPs) and their association with clinical outcomes in a central European cohort (n = 400 patients). Our univariate Cox analysis revealed significant associations of age, duration of diabetes, diastolic blood pressure, total cholesterol and eGFR with progression of DKD (all P < 0.

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Intravascular imaging has become an integral part of the diagnostic and management strategies for intracoronary pathologies. In this White Paper we summarize current evidence and its implications on the use of intravascular imaging in interventional cardiology practice. The areas addressed are planning and optimization of percutaneous coronary intervention, management of stent failure, and evaluation of ambiguous coronary lesions and myocardial infarction with nonobstructive coronary disease.

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Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and subsequent COVID-19 has spread world-wide and become pandemic with about 7 million deaths reported so far. Interethnic variability of the disease has been described, but a significant part of the differences remain unexplained and may be attributable to genetic factors.

Aim: To analyse genetic factors potentially influencing COVID-19 susceptibility and severity in European Roma minority.

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Background: Myasthenia gravis is a rare chronic autoimmune neuromuscular disorder mainly caused by autoantibodies to the nicotinic acetylcholine receptor. Cholesterol is an essential molecule that affects the distribution and proper functioning of this receptor. Several reports have described the potential worsening of myasthenia gravis in patients treated with statins.

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Introduction: Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition. In this study, we highlight a potential association between a variant of the fat mass and obesity-associated () gene and risk of sepsis in children and adolescents.

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The current standard for graft rejection surveillance is endomyocardial biopsy (EMB), an invasive procedure with rare but potentially serious complications. Detection of circulating donor-derived cell-free DNA (ddcfDNA) is an option for noninvasive monitoring of graft injury and rejection. A 63-year-old man and a 65-year-old woman were monitored by EMB for allograft rejection.

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Objectives: The acute respiratory syndrome, known as COVID-19, is characterised by high morbidity and increased mortality. Genetic factors may partially explain the differences in susceptibility to and severity of COVID-19.

Methods: We have analysed common functional polymorphisms within the OAS1 (rs4767027), TMPRSS6 (rs855791), DPP4 (rs3788979), and ZNF335 (rs3848719) genes in SARS-CoV-2 positive subjects (n = 521, different disease severity) and in population controls (n = 2,559 subjects, COVID-19 status unknown).

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Background: Despite a general decline in mean levels across populations, LDL-cholesterol levels remain a major risk factor for acute coronary syndrome (ACS). The APOB, LDL-R, CILP, and SORT-1 genes have been shown to contain variants that have significant effects on plasma cholesterol levels.

Methods And Results: We examined polymorphisms within these genes in 1191 controls and 929 patients with ACS.

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Article Synopsis
  • - Familial dysbetalipoproteinemia (FD) is a rare genetic disorder linked to variations in the apolipoprotein E gene (APOE), but not all APOE2/E2 individuals develop symptoms, suggesting other unknown factors may play a role in the disease.
  • - In a study of 101 FD patients and 80 controls, two specific single-nucleotide polymorphisms (SNPs) were significantly associated with the FD phenotype and were used to create genetic risk scores (GRS2 and GRS15) to better assess risk among APOE2/E2 subjects.
  • - The analysis found that individuals with a GRS2 of three or higher had a nearly four-fold greater risk of developing
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Lipoprotein apheresis (LA) is a therapeutic option for patients with severe hypercholesterolemia who have persistently elevated LDL-C levels despite attempts at drug therapy. MicroRNAs (miRNAs), important posttranscriptional gene regulators, are involved in the pathogenesis of atherosclerosis. Our study aimed to monitor the dynamics of twenty preselected circulating miRNAs in patients under long-term apheresis treatment.

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Background: The association between genetic polymorphisms and early cardiac allograft vasculopathy (CAV) development is relatively unexplored. Identification of genes involved in the CAV process may offer new insights into pathophysiology and lead to a wider range of therapeutic options.

Methods: This prospective study of 109 patients investigated 44 single nucleotide polymorphisms (SNPs) within the susceptibility loci potentially related to coronary artery disease, carotid artery intima-media thickness (cIMT), and in nitric oxide synthase gene.

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A 2021 in silico study highlighted an association between the CD14 polymorphism rs2569190 and increased susceptibility to SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19). The aim of our study was to confirm this finding. We analysed the CD14 polymorphism (C→T; rs2569190) in 516 individuals who tested positive for SARS-CoV-2, with differing disease severity (164 asymptomatic, 245 symptomatic, and 107 hospitalized).

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Reaching critically short telomeres induces cellular senescence and ultimately cell death. Cellular senescence contributes to the loss of tissue function. We aimed to determine the association between variants within genes involved in telomere length maintenance, posttransplant events, and aortic telomere length in heart transplant patients.

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Background: Type 2 diabetes mellitus (T2DM) is a prototypical complex disease with polygenic architecture playing an important role in determining susceptibility to develop the disease (and its complications) in subjects exposed to modifiable lifestyle factors. A current challenge is to quantify the degree of the individual's genetic risk using genetic risk scores (GRS) capturing the results of genome-wide association studies while incorporating possible ethnicity- or population-specific differences.

Methods: This study included three groups of T2DM (T2DM-I, N = 1,032; T2DM-II, N = 353; and T2DM-III, N = 399) patients and 2,481 diabetes-free subjects.

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Objectives: We investigated whether social gradient in all-cause mortality in the Czech Republic changed during the postcommunist transition by comparing two cohorts, recruited before and after the political changes in 1989.

Methods: Participants (aged 25-64 years) in two population surveys (n=2530 in 1985, n=2294 in 1992) were followed up for mortality for 15 years (291 and 281 deaths, respectively). Education was classified into attainment categories and years of schooling (both continuous and in tertiles).

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Article Synopsis
  • Stage 5 chronic kidney disease (CKD5) is more common in the Czech Republic, suggesting a possible genetic link.
  • A study involving 1489 CKD5 patients and 2559 healthy controls analyzed specific genetic variants in the APOL1 gene to assess their prevalence.
  • The rs10854688 SNP was associated with CKD5, while a new 55-nucleotide polymorphism showed a higher presence in patients, indicating more research is needed for confirmation.
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We investigated the relationship between 'epigenetic age' (EA) derived from DNA methylation (DNAm) and myocardial infarction (MI)/acute coronary syndrome (ACS). A random population sample was examined in 2003/2005 ( = 9360, 45-69, the HAPIEE project) and followed up for 15 years. From this cohort, incident MI/ACS (cases, = 129) and age- and sex-stratified controls ( = 177) were selected for a nested case-control study.

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This study investigated 12-year blood lipid trajectories and whether these trajectories are modified by smoking and lipid lowering treatment in older Russians. To do so, we analysed data on 9,218 Russian West-Siberian Caucasians aged 45-69 years at baseline participating in the international HAPIEE cohort study. Mixed-effect multilevel models were used to estimate individual level lipid trajectories across the baseline and two follow-up examinations (16,445 separate measurements over 12 years).

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Purpose Of Review: Chronic inflammation has been recognized as one of the most important pathophysiological mechanisms' initiation and progression of atherosclerosis. Statins belong to most successful therapeutic agents in the prevention and treatment of atherothrombotic vascular disease. Their non-lipid related effects including suppression of inflammation have been repeatedly proven in both experimental and clinical settings.

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Familial hypercholesterolemia (FH), is an autosomal dominant disorder caused by mutations in the , , , and genes and is characterized by high plasma levels of total and low-density lipoprotein (LDL) cholesterol. Our study aimed to analyze the influences of two different therapies on a wide spectrum of plasma protein biomarkers of cardiovascular diseases. Plasma from FH patients under hypolipidemic therapy ( = 18; men = 8, age 55.

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Heterozygotes for Z or S alleles of alpha-1-antrypsin (AAT) have low serum AAT levels. Our aim was to compare the risk of hepatocellular carcinoma (HCC) in patients with liver cirrhosis carrying the MM, MZ and MS genotypes. The study groups consisted of 1119 patients with liver cirrhosis of various aetiologies, and 3240 healthy individuals served as population controls.

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A DNA methylation pattern represents an original plan of the function settings of individual cells and tissues. The basic strategies of its development and changes during the human lifetime are known, but the details related to its modification over the years on an individual basis have not yet been studied. Moreover, current evidence shows that environmental exposure could generate changes in DNA methylation settings and, subsequently, the function of genes.

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