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ABSTRACT: The aim of the study was to assess the frequency of SNP896A/G in the Toll-like receptor (TLR) 4 gene and SNP1350T/C in the TLR2 gene in patients with acute myocardial infarction (AMI) and to analyse the association of these SNPs with risk factors for atherosclerosis and clinical aspects of AMI in a sample of the Croatian population. We included 240 participants in the study: 120 AMI patients and 120 sex- and age-matched healthy blood donor controls. The SNP1350T/C variant in the TLR2 gene showed a lower frequency in the AMI patient group than in the control group (P = 0.033). The frequency of SNP896A/G variants in the TLR4 gene between the patients and the controls did not differ (P = 0.286). Significantly, fewer people had SNP1350T/C in the TLR2 gene (P = 0.003) among the participants with arterial hypertension than those without it. The frequency of SNP896A/G in TLR4 was the same in hypertensive patients compared with normotensive subjects (P = 0.088). SNP1350T/C in TLR2 was less frequent in the AMI patients and in those with hypertension. Thus, SNP1350T/C in TLR2 might play a protective role against AMI and arterial hypertension. The frequency of SNP896A/G in the TLR4 gene was not associated with AMI and arterial hypertension. Other risk factors for atherosclerosis and clinical aspects of myocardial infarction were not associated with the genotype distribution of the examined genes.
Scandinavian Journal of Immunology 01/2012; 75(5):517-23. · 2.23 Impact Factor
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ABSTRACT: The aims of the present study were to assess (1) the parental origin of trisomy 21 and the stage in which nondisjunction occurs and (2) the relationship between altered genetic recombination and maternal age as risk factors for trisomy 21. The study included 102 cases with Down syndrome from the Croatian population. Genotyping analyses were performed by polymerase chain reaction using 11 short tandem repeat markers along chromosome 21q. The vast majority of trisomy 21 was of maternal origin (93%), followed by paternal (5%) and mitotic origin (2%). The frequencies of maternal meiotic I (MI) and meiotic II errors were 86% and 14%, respectively. The highest proportion of cases with zero recombination was observed among those with maternal MI derived trisomy 21. A higher proportion of telomeric exchanges were presented in cases with maternal MI errors and cases with young mothers, although these findings were not statistically significant. The present study is the first report examining parental origin and altered genetic recombination as a risk factor for trisomy 21 in a Croatian population. The results support that trisomy 21 has a universal genetic etiology across different human populations.
Genetic Testing and Molecular Biomarkers 08/2011; 16(1):70-3. · 1.11 Impact Factor
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Pancreas 07/2011; 40(5):787-8. · 2.39 Impact Factor
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ABSTRACT: Cytokine gene polymorphisms have been associated with modified gene expression and cytokine production. Gamma interferon (IFN-γ) plays an important role in the pathogenesis of kidney transplant rejection. This study evaluated the association between IFN-γ gene polymorphisms and the history of acute allograft rejection in 53 adult first-transplant recipients receiving cadaveric kidney grafts. They were followed up in a single centre until 2006, for a median time of 4 years after transplantation (1-22 years). IFN-γ gene polymorphisms +874 T/A (rs2430561) were determined by polymerase chain reaction (PCR). T/T high IFN-γ genotype was found in 12, intermediate T/A in 29 and low A/A in 12 patients. Twenty-six acute kidney rejection episodes were evidenced in 20 patients, of which none occurred in the 12 patients with low IFN-γ genotype A/A. Age, gender, number of HLA (human leukocyte antigen) mismatches, ABO blood groups, HLA, time after transplantation, creatinine clearance and immunosuppressive regimens were excluded as confounding factors associated with IFN-γ genotype distribution between rejectors and non-rejectors. IFN-γ gene polymorphisms could be an important risk factor for acute kidney transplant rejection, whereas the low A/A IFN-γ genotype could be protective against rejection.
Scandinavian Journal of Immunology 01/2011; 73(4):319-24. · 2.23 Impact Factor
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ABSTRACT: Glycan heterogeneity was shown to be associated with numerous diseases and glycan analysis has a great diagnostic potential. Recently, we reported high biological variability of human plasma N-glycome at the level of population. The observed variations were larger than changes reported to be associated with some diseases; thus, it was of great importance to examine the temporal constancy of human N-glycome before glycosylation changes could be routinely analyzed in diagnostic laboratories. Plasma samples were taken from 12 healthy individuals. The blood was drawn on seven occasions during 5 days. N-Linked glycans, released from plasma proteins, were separated using hydrophilic interaction high-performance liquid chromatography into 16 groups (GP1-GP16) and quantified. The results showed very small variation in all glycan groups, indicating very good temporal stability of N-glycome in a single individual. Coefficients of variation from 1.6% for GP8 to 11.4% for GP1 were observed. The average coefficient of variation was 5.6%. These variations were comparable to those observed when analytical procedure was tested for its precision. Good stability of plasma N-glycome in healthy individuals implies that glycosylation is under significant genetic control. Changes observed in glycan profiles are consequence of environmental influences and physiologic responses and therefore have a significant diagnostic potential.
Glycobiology 10/2009; 19(12):1547-53. · 3.58 Impact Factor
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ABSTRACT: Cell-free DNA has been investigated as a diagnostic marker in many diseases, including acute conditions. Our hypothesis was that in acute pancreatitis free serum DNA correlates with the extent of pancreatic necrosis and that it may be an early marker of severity.
Free DNA was measured in sera from 30 patients with acute pancreatitis at admission, on the first, fourth and seventh day following admission.
On the first day following admission patients who would develop severe pancreatitis had significantly higher serum DNA levels than those with mild disease (median 0.271 ng/microL vs. 0.059 ng/microL respectively; P<0.001). This parameter showed very good characteristics as a potential severity predictor (area under ROC curve 0.97). Free serum DNA was in correlation with the extent of pancreatic necrosis.
Free serum DNA correlates with the extent of pancreatic necrosis and is a potential early marker of severe acute pancreatitis.
Clinical biochemistry 11/2008; 42(1-2):38-43. · 2.02 Impact Factor
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ABSTRACT: Prenatal paternity analysis can be performed only after invasive sampling of chorionic villi or amnionic fluid. Aiming to enable noninvasive paternity testing, we attempted to amplify fetal alleles from maternal plasma. Cell-free DNA was isolated from plasma of 20 pregnant women and amplified with ampFLSTR Identifiler and ampFLSTR Yfiler kits. Unfortunately, autosomal fetal alleles were heavily suppressed by maternal DNA, and the only locus that was reliably amplified with AmpFLSTR Identifiler kit was amelogenin, which revealed only fetal gender. Much better success was obtained with AmpFLSTR Yfiler kit, which, in the case of male fetuses, successfully amplified between six and 16 fetal loci. All amplified fetal alleles matched the alleles of their putative fathers, confirming the tested paternity. To the best of our knowledge, this is a first report of noninvasive prenatal paternity testing.
Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 11/2008; 123(1):75-9. · 2.59 Impact Factor
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ABSTRACT: Aiming to develop more reliable methods for determination of fetal gender from maternal plasma we compared three different systems of polymerase chain reaction (PCR) detection of Y-chromosome DNA.
Cell-free DNA was isolated from 96 samples of maternal plasma and (1) amplified using AmpFLSTR-Identifiler (15 autosomal STR loci and amelogenin) or AmpFLSTR-Yfiler (16 Y-chromosome STR loci) kits and subsequently analyzed on ABI-PRISM 310 Genetic Analyzer, or (2) analyzed using Quantifiler-Y DNA-Quantification kit. Gender of fetuses was confirmed by cytogenetic analysis or phenotypically at birth.
AmpFLSTR-Identifiler and Quantifiler-Y Human-Quantification kits were rather reliable in determining fetal gender (92.5 and 98.1%, respectively), but false negatives were still present in both systems. AmpFLSTR-Yfiler was found to be fully reliable as it amplified Y-chromosome in all cases of male fetuses, and was thus 100% correct in determining fetal gender. In addition, it enabled comparison of polymorphic Y-chromosome loci between father and a child, thus further supporting specificity of obtained results.
Prenatal Diagnosis 06/2008; 28(5):412-6. · 2.11 Impact Factor
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ABSTRACT: Autosomal trisomies account for more than 80 % of significant chromosomal disorders and are routinely detected by the cytogenetic analysis of cultivated amniotic fluid cells. However, this approach is time-consuming and requires a significant level of training and expertise. The main aim of our work was to introduce QF-PCR to our lab, a quicker, simpler and cheaper method. We also aimed to evaluate the usefulness of the chosen marker set in the Croatian population and the reliability and accuracy of the obtained results. STR loci from chromosomes 13, 18 and 21 were co-amplified, separated by capillary electrophoresis and analysed. Characteristic triplets and/or 2:1 patterns were detected for trisomic samples while normal samples were either homozygous or heterozygous. The tested set of loci showed high heterozygosity and therefore a good potential for analyzing the Croatian population. The results of QF-PCR were in full compliance with the cytogenetic analysis which was also performed for cultivated amniotic fluid cell samples.
Croatica Chemica Acta (CCA@chem.pmf.hr); Vol.81 No.1.
