Saška Marczi | Josip Juraj Strossmayer University of Osijek (original) (raw)
Papers by Saška Marczi
Cytochrome P450 1A1 (CYP1A1) is an enzyme participating in the bioactivation of various endogenou... more Cytochrome P450 1A1 (CYP1A1) is an enzyme participating in the bioactivation of various endogenous and environmental reactive compounds that can bind to DNA and thus induce cancerogenesis. Gene encoding the enzyme is expressed in the prostate tissue and is polymorphic. CYP1A1*2A gene polymorphism is associated with elevated enzyme activity and/or inducibility which can lead to accumulation of genotoxic compounds and consequently to cancerogenesis. We examined the association of this polymorphism with prostate cancer (PCa) risk and aggressiveness. The case-control study consisted of 120 PCa patients and 120 benign prostatic hyperplasia (BPH) controls, in Croatian population. Regarding aggressiveness, PCa patients were grouped according to the Gleason score (GS), tumor stage (T) and existence of distant metastasis (M). The polymorphism was analyzed using real-time polymerase chain reaction (PCR). We did not observe association of mutated allele with PCa risk, neither with PCa aggressi...
Recent studies suggest that chronic inflammation is crucial in the development and progression of... more Recent studies suggest that chronic inflammation is crucial in the development and progression of prostate cancer (CaP). Interleukin-6 (IL-6) is a proinflammatory cytokine that plays an important role in intraprostatic inflammation and thus carcinogenesis. The –174G>C polymorphism of IL-6 gene has been associated with high IL-6 producer pheno- type and an increased risk for CaP . The aim of this study was to evaluate the association between the mentioned IL-6 polymorphism and CaP risk, as well as to compare the genotype frequency between the different tumour grades of CaP , in population of Eastern Croatia. We analyzed the IL-6 polymorphism in 120 CaP patients and 120 controls with benign prostatic hyperplasia (BPH). CaP patients and BPH controls did not statistically differ in studied IL-6 polymorphism. Furthermore, high IL-6 producer genotypes (GG or GC) were more frequent in controls than in CaP group (86.7% vs 80.8%, respectively, p=0.147). Also, no statistically significant ...
Single nuclear polymorphisms (SNPs) in the promotor regions of cytokine genes included in angioge... more Single nuclear polymorphisms (SNPs) in the promotor regions of cytokine genes included in angiogenesis may influence prostate cancer (PCa) development via regulation of the pathways of tumor angiogenesis. The aim of the present study was to investigate the association of IL-1β+3954 (rs1143634) and IL-10-1082 (rs1800896) polymorphisms with PCa risk and aggressiveness in eastern Croatian patients. One hundred twenty PCa patients and 120 benign prostatic hyperplasia (BPH) controls were genotyped using real-time PCR (LightCycler Instrument, Roche Diagnostics) and the melting curve analysis method. There was no significant difference in the frequency of genotypes for the two polymorphisms between PCa patients and controls (χ2=0.857, p=0.355 for IL-β1; χ2=0.026, p=0.872 for IL-10). Carriers of the IL-10-1082A>G variant were found to be associated with the Gleason score (GS)>7 (AA versus GA+GG, OR=3.47, 95% CI 1.11-10.88, p=0.033). There was no significant difference in the frequency...
Antioxidants, 2022
This study aimed to investigate the effect of 7-day high-salt (HS) and the specific role of oxida... more This study aimed to investigate the effect of 7-day high-salt (HS) and the specific role of oxidative stress on vascular low-grade inflammation initiation in young salt-resistant healthy individuals. 30 young healthy individuals adhered to a 7-day low-salt (LS) diet (3.5 g salt/day), followed by a 7-day high-salt (HS) diet (~14.7 g salt/day) protocol. Pro- and anti-inflammatory cytokines, frequencies of peripheral blood Th17 and Treg cells, Th17/Treg ratio, enzymes SGK1, and p38/MAP kinase, as well as biomarkers of endothelial activation and oxidative stress, were measured before and after the 7-day HS diet protocol. Short-term HS diet significantly increased serum level of pro-inflammatory cytokines INF-γ, TNF-α, IL-9, and IL-17A levels, but also of anti-inflammatory cytokines IL-10 and TGF-β1. Relative amount of total SGK1 significantly increased, following the 7-day HS diet. Increased oxidative stress level, following HS diet, was negatively associated with the frequency of Treg ...
Cilj Karcinom prostate je najcesci oblik raka kod muskaraca, ali jos uvijek nije potpuno objasnje... more Cilj Karcinom prostate je najcesci oblik raka kod muskaraca, ali jos uvijek nije potpuno objasnjen razvoj karcinoma prostate. Kronicna upala je važan cimbenik u razvoju karcinoma prostate, a uloga upale u razvoju benigne hiperplazije prostate od nedavno je u žaristu istraživanja. Istraživanja gena, izražaja te zastupnjenosti i polimorfizama gena koji su važni u upalnom procesu, prvenstveno citokina, je važan korak u razumijevanju uloge upale u razvoju karcinoma prostate. Cilj naseg istraživanja je da utvrdimo zastupljenost i ralike izražaja gena za citokine u nasih bolesnika sa karcinomom prostate. Materijali i metode Istraživanje je prospektivnog tipa sa prvom odrednicom od 240 bolesnika ukljucenih (120 sa BPH i 120 sa karcinomom prostate), dok je ukupno trajanje istraživanja 3 godine. Opce zdrastvene informacije, uroloski pregled i uzorci za DNA analizu (tkivo ili krv) su prikupljeni od svakog bolesnika. Analizirali smo polimorfizme za: IL-6, IL-10, TGF-β , TNF-α i INF-γ . Rezulta...
Human leukocyte antigen (HLA) genes are major genetic determinants of type I diabetes (T1D) susce... more Human leukocyte antigen (HLA) genes are major genetic determinants of type I diabetes (T1D) susceptibility, with variable predispositional effects across populations. In order to examine the extent of haplotypic risk and the patterns of HLA associations with T1D in the population of East Croatia, A, B, DRB1 and DQB1 loci were typed at low resolution using sequence-specific primer PCR methodology. Single and multipoint genetic associations were assessed through transmission disequilibrium testing of multilocus haplotypes in 13 nuclear families (55 subjects), estimated according to the expectation-maximization algorithm. Empirical P- values and pairwise linkage disequilibrium measures were obtained. No Mendelian errors were detected. Generally, DQB1*02, DQ8 and DQ7 were commonly inherited in cis with DRB1*03, DRB1*04 and DRB1*11, respectively. The most frequent (10%) ancestral haplotype (A1-B8-DR3-DQ2) was not associated with risk of T1D. DQ8 allele and two-locus (permuted P=0.047) DR...
The 4, 9-diazapyrenium derivatives: 4-methyl-2, 7-diamino-5, 10-diphenyl-4, 9-diazapyrenium hydro... more The 4, 9-diazapyrenium derivatives: 4-methyl-2, 7-diamino-5, 10-diphenyl-4, 9-diazapyrenium hydrogensulfate (ADAP) and 4, 9-dimethyl-4, 9-diazapyrenium hydrogensulfate (GDAP) are newly synthesized DNA intercalators. ADAP is additionaly an RNA intercalator, unlike GDAP. Antiproliferative activity of 4, 9-diazapyrenium derivatives was analysed in vitro on two mouse tumor cell lines, fibrosarcoma (FsaR) and squamous carcinoma (SCCVII), using the MTT assay. Toxicity and antitumor activity of ADAP and GDAP in vivo were investigated on C3Hf/BuZGr mice strain. ADAP caused strong growth inhibitory effect on both mouse tumor cell lines in concentration 1-100 μ M, in comparison to GDAP which caused statistically significant difference from control on FsaR in concentrations 10 μ M and 100 μ M, and on SCCVII in concentration 100 μ M. Histopathological analysis of microscopic slides of the organs of mice treated with single and multiple applications of 4, 9-diazapyrenium derivatives in concentra...
Uvod: Najznacajnije genske mutacije koagulacijskih cimbenika rizika za trombozu su G1691A (Leiden... more Uvod: Najznacajnije genske mutacije koagulacijskih cimbenika rizika za trombozu su G1691A (Leiden mutacija) za faktor V (FV- Leiden), G20210A za faktor II (protrombin), C677T za metilen- tetrahidrofolat reduktazu (MTHFR), te polimorfizam 4G u genu za inhibitor plazminogen aktivatora-1 (PAI-1). Nositelji navedenih genskih mutacija imaju povecan rizik za razvoj tromboze tijekom života, a taj se rizik jos uvecava ako su nositelji homozigoti za navedene mutacije ili imaju istovremeno nekoliko združenih mutacija. Cilj ove studije bio je odrediti ucestalost mutacija u genima 4 koagulacijska cimbenika rizika za trombozu u skupini bolesnika kod kojih je postavljena sumnja na trombofiliju. Materijali i metode: Promjene u genima za FV-Leiden, protrombin, MTHFR i PAI-1 određivane su metodom lancane reakcije polimerazom u realnom vremenu (real- time PCR) pomocu komercijalnih kitova i LightCycler uređaja. Detekcija prisutnosti mutacija temeljila se na « ; ; fluorescence resonance energy transfer...
Clinical Chemistry and Laboratory Medicine, 2017
This article deals with correlation of tumor necrosis factor and it's polymoprhism to the dev... more This article deals with correlation of tumor necrosis factor and it's polymoprhism to the development and progression of prostate cancer.
Frontiers in Pharmacology, 2021
Background: Most studies examining tramadol metabolism have been carried out in non-surgical pati... more Background: Most studies examining tramadol metabolism have been carried out in non-surgical patients and with oral tramadol. The aim of this study was 1) to measure concentrations of tramadol, O-demethyltramadol (ODT), and N-demethyltramadol (NDT) in the surgical patients admitted to the intensive care unit (ICU) within the first 24 postoperative hours after intravenous application of tramadol, and 2) to examine the effect of systemic inflammation on tramadol metabolism and postoperative pain. Methods: A prospective observational study was carried out in the surgical ICU in the tertiary hospital. In the group of 47 subsequent patients undergoing major abdominal surgery, pre-operative blood samples were taken for CYP2D6 polymorphism analysis. Systemic inflammation was assessed based on laboratory and clinical indicators. All patients received 100 mg of tramadol intravenously every 6 h during the first postoperative day. Postoperative pain was assessed before and 30 min after tramado...
HLA CLASS II GENETICS OF EASTERN CROATIAN COELIAC DISEASE PATIENTS S. Marczi1, 2, S. Tokic1, M. S... more HLA CLASS II GENETICS OF EASTERN CROATIAN COELIAC DISEASE PATIENTS S. Marczi1, 2, S. Tokic1, M. Stefanic1, 2, Lj. Glavas-Obrovac2, A. Bugarin1, I. Mihaljevic1, 2 1Clinical Institute of Nuclear Medicine and Radiation Protection, University Hospital Centre Osijek, Croatia, 2Faculty of Medicine, J.J. Strossmayer University, Osijek, Croatia Genetic predisposition to coeliac disease (CD) is primarily attributed to DQ2 and DQ8 heterodimers encoded by HLA-DQA1*0501/DQB1*02 and HLA-DQA1*0301/DQB1*0302 loci. In order to investigate these associations in Eastern Croatian population, 23 unrelated children diagnosed with CD were typed for HLA-DRB1, - DQA1 and -DQB1 alleles by sequence specific oligonucleotide probe (PCR-SSP) method. Allele and haplotype frequencies (EM algorithm) were compared to data obtained from previously typed, unrelated, healthy Croatian controls (n=119) by using Fisher exact test and relative risks (RR, Woolf-Haldane method). CD susceptibility was strongly associated wit...
Scientific Reports, 2020
Next-generation sequencing (NGS) is increasingly used in transplantation settings, but also as a ... more Next-generation sequencing (NGS) is increasingly used in transplantation settings, but also as a method of choice for in-depth analysis of population-specific HLA genetic architecture and its linkage to various diseases. With respect to complex ethnic admixture characteristic for East Croatian population, we aimed to investigate class-I (HLA-A, -B, -C) and class-II (HLA-DRB1, -DQA1, -DQB1) HLA diversity at the highest, 4-field resolution level in 120 healthy, unrelated, blood donor volunteers. Genomic DNA was extracted and HLA genotypes of class I and DQA1 genes were defined in full-length, -DQB1 from intron 1 to 3′ UTR, and -DRB1 from intron 1 to intron 4 (Illumina MiSeq platform, Omixon Twin algorithms, IMGT/HLA release 3.30.0_5). Linkage disequilibrium statistics, Hardy-Weinberg departures, and haplotype frequencies were inferred by exact tests and iterative Expectation-Maximization algorithm using PyPop 0.7.0 and Arlequin v3.5.2.2 software. Our data provide first description of ...
Collegium antropologicum, 2015
Single nucleotide polymorphisms (SNPs) in the promotor regions of cytokine genes included in angi... more Single nucleotide polymorphisms (SNPs) in the promotor regions of cytokine genes included in angiogenesis may influence prostate cancer (PCa) development via regulation of the pathways of tumor angiogenesis. The aim of the present study was to investigate the association of IL-1 female +3954 (rs1143634) and IL-10-1082 (rs1800896) polymorphisms with PCa risk and aggressiveness in eastern Croatian patients. One hundred twenty PCa patients and 120 benign prostatic hyperplasia (BPH) controls were genotyped using real-time PCR (LightCycler Instrument, Roche Diagnostics) and the melting curve analysis method. There was no significant difference in the frequency of genotypes for the two polymorphisms between PCa patients and controls (Χ2 = 0.857, p = 0.355 for IL-female 1; Χ2 = 0.026, p = 0.872 for IL-10). Carriers of the IL-10-1082A>G variant were found to be associated with the Gleason score (GS) > 7 (AA versus GA+GG, OR = 3.47, 95% CI 1.11-10.88, p = 0.033). There was no significa...
Cytochrome P450 1A1 (CYP1A1) is an enzyme participating in the bioactivation of various endogenou... more Cytochrome P450 1A1 (CYP1A1) is an enzyme participating in the bioactivation of various endogenous and environmental reactive compounds that can bind to DNA and thus induce cancerogenesis. Gene encoding the enzyme is expressed in the prostate tissue and is polymorphic. CYP1A1*2A gene polymorphism is associated with elevated enzyme activity and/or inducibility which can lead to accumulation of genotoxic compounds and consequently to cancerogenesis. We examined the association of this polymorphism with prostate cancer (PCa) risk and aggressiveness. The case-control study consisted of 120 PCa patients and 120 benign prostatic hyperplasia (BPH) controls, in Croatian population. Regarding aggressiveness, PCa patients were grouped according to the Gleason score (GS), tumor stage (T) and existence of distant metastasis (M). The polymorphism was analyzed using real-time polymerase chain reaction (PCR). We did not observe association of mutated allele with PCa risk, neither with PCa aggressi...
Recent studies suggest that chronic inflammation is crucial in the development and progression of... more Recent studies suggest that chronic inflammation is crucial in the development and progression of prostate cancer (CaP). Interleukin-6 (IL-6) is a proinflammatory cytokine that plays an important role in intraprostatic inflammation and thus carcinogenesis. The –174G>C polymorphism of IL-6 gene has been associated with high IL-6 producer pheno- type and an increased risk for CaP . The aim of this study was to evaluate the association between the mentioned IL-6 polymorphism and CaP risk, as well as to compare the genotype frequency between the different tumour grades of CaP , in population of Eastern Croatia. We analyzed the IL-6 polymorphism in 120 CaP patients and 120 controls with benign prostatic hyperplasia (BPH). CaP patients and BPH controls did not statistically differ in studied IL-6 polymorphism. Furthermore, high IL-6 producer genotypes (GG or GC) were more frequent in controls than in CaP group (86.7% vs 80.8%, respectively, p=0.147). Also, no statistically significant ...
Single nuclear polymorphisms (SNPs) in the promotor regions of cytokine genes included in angioge... more Single nuclear polymorphisms (SNPs) in the promotor regions of cytokine genes included in angiogenesis may influence prostate cancer (PCa) development via regulation of the pathways of tumor angiogenesis. The aim of the present study was to investigate the association of IL-1β+3954 (rs1143634) and IL-10-1082 (rs1800896) polymorphisms with PCa risk and aggressiveness in eastern Croatian patients. One hundred twenty PCa patients and 120 benign prostatic hyperplasia (BPH) controls were genotyped using real-time PCR (LightCycler Instrument, Roche Diagnostics) and the melting curve analysis method. There was no significant difference in the frequency of genotypes for the two polymorphisms between PCa patients and controls (χ2=0.857, p=0.355 for IL-β1; χ2=0.026, p=0.872 for IL-10). Carriers of the IL-10-1082A>G variant were found to be associated with the Gleason score (GS)>7 (AA versus GA+GG, OR=3.47, 95% CI 1.11-10.88, p=0.033). There was no significant difference in the frequency...
Antioxidants, 2022
This study aimed to investigate the effect of 7-day high-salt (HS) and the specific role of oxida... more This study aimed to investigate the effect of 7-day high-salt (HS) and the specific role of oxidative stress on vascular low-grade inflammation initiation in young salt-resistant healthy individuals. 30 young healthy individuals adhered to a 7-day low-salt (LS) diet (3.5 g salt/day), followed by a 7-day high-salt (HS) diet (~14.7 g salt/day) protocol. Pro- and anti-inflammatory cytokines, frequencies of peripheral blood Th17 and Treg cells, Th17/Treg ratio, enzymes SGK1, and p38/MAP kinase, as well as biomarkers of endothelial activation and oxidative stress, were measured before and after the 7-day HS diet protocol. Short-term HS diet significantly increased serum level of pro-inflammatory cytokines INF-γ, TNF-α, IL-9, and IL-17A levels, but also of anti-inflammatory cytokines IL-10 and TGF-β1. Relative amount of total SGK1 significantly increased, following the 7-day HS diet. Increased oxidative stress level, following HS diet, was negatively associated with the frequency of Treg ...
Cilj Karcinom prostate je najcesci oblik raka kod muskaraca, ali jos uvijek nije potpuno objasnje... more Cilj Karcinom prostate je najcesci oblik raka kod muskaraca, ali jos uvijek nije potpuno objasnjen razvoj karcinoma prostate. Kronicna upala je važan cimbenik u razvoju karcinoma prostate, a uloga upale u razvoju benigne hiperplazije prostate od nedavno je u žaristu istraživanja. Istraživanja gena, izražaja te zastupnjenosti i polimorfizama gena koji su važni u upalnom procesu, prvenstveno citokina, je važan korak u razumijevanju uloge upale u razvoju karcinoma prostate. Cilj naseg istraživanja je da utvrdimo zastupljenost i ralike izražaja gena za citokine u nasih bolesnika sa karcinomom prostate. Materijali i metode Istraživanje je prospektivnog tipa sa prvom odrednicom od 240 bolesnika ukljucenih (120 sa BPH i 120 sa karcinomom prostate), dok je ukupno trajanje istraživanja 3 godine. Opce zdrastvene informacije, uroloski pregled i uzorci za DNA analizu (tkivo ili krv) su prikupljeni od svakog bolesnika. Analizirali smo polimorfizme za: IL-6, IL-10, TGF-β , TNF-α i INF-γ . Rezulta...
Human leukocyte antigen (HLA) genes are major genetic determinants of type I diabetes (T1D) susce... more Human leukocyte antigen (HLA) genes are major genetic determinants of type I diabetes (T1D) susceptibility, with variable predispositional effects across populations. In order to examine the extent of haplotypic risk and the patterns of HLA associations with T1D in the population of East Croatia, A, B, DRB1 and DQB1 loci were typed at low resolution using sequence-specific primer PCR methodology. Single and multipoint genetic associations were assessed through transmission disequilibrium testing of multilocus haplotypes in 13 nuclear families (55 subjects), estimated according to the expectation-maximization algorithm. Empirical P- values and pairwise linkage disequilibrium measures were obtained. No Mendelian errors were detected. Generally, DQB1*02, DQ8 and DQ7 were commonly inherited in cis with DRB1*03, DRB1*04 and DRB1*11, respectively. The most frequent (10%) ancestral haplotype (A1-B8-DR3-DQ2) was not associated with risk of T1D. DQ8 allele and two-locus (permuted P=0.047) DR...
The 4, 9-diazapyrenium derivatives: 4-methyl-2, 7-diamino-5, 10-diphenyl-4, 9-diazapyrenium hydro... more The 4, 9-diazapyrenium derivatives: 4-methyl-2, 7-diamino-5, 10-diphenyl-4, 9-diazapyrenium hydrogensulfate (ADAP) and 4, 9-dimethyl-4, 9-diazapyrenium hydrogensulfate (GDAP) are newly synthesized DNA intercalators. ADAP is additionaly an RNA intercalator, unlike GDAP. Antiproliferative activity of 4, 9-diazapyrenium derivatives was analysed in vitro on two mouse tumor cell lines, fibrosarcoma (FsaR) and squamous carcinoma (SCCVII), using the MTT assay. Toxicity and antitumor activity of ADAP and GDAP in vivo were investigated on C3Hf/BuZGr mice strain. ADAP caused strong growth inhibitory effect on both mouse tumor cell lines in concentration 1-100 μ M, in comparison to GDAP which caused statistically significant difference from control on FsaR in concentrations 10 μ M and 100 μ M, and on SCCVII in concentration 100 μ M. Histopathological analysis of microscopic slides of the organs of mice treated with single and multiple applications of 4, 9-diazapyrenium derivatives in concentra...
Uvod: Najznacajnije genske mutacije koagulacijskih cimbenika rizika za trombozu su G1691A (Leiden... more Uvod: Najznacajnije genske mutacije koagulacijskih cimbenika rizika za trombozu su G1691A (Leiden mutacija) za faktor V (FV- Leiden), G20210A za faktor II (protrombin), C677T za metilen- tetrahidrofolat reduktazu (MTHFR), te polimorfizam 4G u genu za inhibitor plazminogen aktivatora-1 (PAI-1). Nositelji navedenih genskih mutacija imaju povecan rizik za razvoj tromboze tijekom života, a taj se rizik jos uvecava ako su nositelji homozigoti za navedene mutacije ili imaju istovremeno nekoliko združenih mutacija. Cilj ove studije bio je odrediti ucestalost mutacija u genima 4 koagulacijska cimbenika rizika za trombozu u skupini bolesnika kod kojih je postavljena sumnja na trombofiliju. Materijali i metode: Promjene u genima za FV-Leiden, protrombin, MTHFR i PAI-1 određivane su metodom lancane reakcije polimerazom u realnom vremenu (real- time PCR) pomocu komercijalnih kitova i LightCycler uređaja. Detekcija prisutnosti mutacija temeljila se na « ; ; fluorescence resonance energy transfer...
Clinical Chemistry and Laboratory Medicine, 2017
This article deals with correlation of tumor necrosis factor and it's polymoprhism to the dev... more This article deals with correlation of tumor necrosis factor and it's polymoprhism to the development and progression of prostate cancer.
Frontiers in Pharmacology, 2021
Background: Most studies examining tramadol metabolism have been carried out in non-surgical pati... more Background: Most studies examining tramadol metabolism have been carried out in non-surgical patients and with oral tramadol. The aim of this study was 1) to measure concentrations of tramadol, O-demethyltramadol (ODT), and N-demethyltramadol (NDT) in the surgical patients admitted to the intensive care unit (ICU) within the first 24 postoperative hours after intravenous application of tramadol, and 2) to examine the effect of systemic inflammation on tramadol metabolism and postoperative pain. Methods: A prospective observational study was carried out in the surgical ICU in the tertiary hospital. In the group of 47 subsequent patients undergoing major abdominal surgery, pre-operative blood samples were taken for CYP2D6 polymorphism analysis. Systemic inflammation was assessed based on laboratory and clinical indicators. All patients received 100 mg of tramadol intravenously every 6 h during the first postoperative day. Postoperative pain was assessed before and 30 min after tramado...
HLA CLASS II GENETICS OF EASTERN CROATIAN COELIAC DISEASE PATIENTS S. Marczi1, 2, S. Tokic1, M. S... more HLA CLASS II GENETICS OF EASTERN CROATIAN COELIAC DISEASE PATIENTS S. Marczi1, 2, S. Tokic1, M. Stefanic1, 2, Lj. Glavas-Obrovac2, A. Bugarin1, I. Mihaljevic1, 2 1Clinical Institute of Nuclear Medicine and Radiation Protection, University Hospital Centre Osijek, Croatia, 2Faculty of Medicine, J.J. Strossmayer University, Osijek, Croatia Genetic predisposition to coeliac disease (CD) is primarily attributed to DQ2 and DQ8 heterodimers encoded by HLA-DQA1*0501/DQB1*02 and HLA-DQA1*0301/DQB1*0302 loci. In order to investigate these associations in Eastern Croatian population, 23 unrelated children diagnosed with CD were typed for HLA-DRB1, - DQA1 and -DQB1 alleles by sequence specific oligonucleotide probe (PCR-SSP) method. Allele and haplotype frequencies (EM algorithm) were compared to data obtained from previously typed, unrelated, healthy Croatian controls (n=119) by using Fisher exact test and relative risks (RR, Woolf-Haldane method). CD susceptibility was strongly associated wit...
Scientific Reports, 2020
Next-generation sequencing (NGS) is increasingly used in transplantation settings, but also as a ... more Next-generation sequencing (NGS) is increasingly used in transplantation settings, but also as a method of choice for in-depth analysis of population-specific HLA genetic architecture and its linkage to various diseases. With respect to complex ethnic admixture characteristic for East Croatian population, we aimed to investigate class-I (HLA-A, -B, -C) and class-II (HLA-DRB1, -DQA1, -DQB1) HLA diversity at the highest, 4-field resolution level in 120 healthy, unrelated, blood donor volunteers. Genomic DNA was extracted and HLA genotypes of class I and DQA1 genes were defined in full-length, -DQB1 from intron 1 to 3′ UTR, and -DRB1 from intron 1 to intron 4 (Illumina MiSeq platform, Omixon Twin algorithms, IMGT/HLA release 3.30.0_5). Linkage disequilibrium statistics, Hardy-Weinberg departures, and haplotype frequencies were inferred by exact tests and iterative Expectation-Maximization algorithm using PyPop 0.7.0 and Arlequin v3.5.2.2 software. Our data provide first description of ...
Collegium antropologicum, 2015
Single nucleotide polymorphisms (SNPs) in the promotor regions of cytokine genes included in angi... more Single nucleotide polymorphisms (SNPs) in the promotor regions of cytokine genes included in angiogenesis may influence prostate cancer (PCa) development via regulation of the pathways of tumor angiogenesis. The aim of the present study was to investigate the association of IL-1 female +3954 (rs1143634) and IL-10-1082 (rs1800896) polymorphisms with PCa risk and aggressiveness in eastern Croatian patients. One hundred twenty PCa patients and 120 benign prostatic hyperplasia (BPH) controls were genotyped using real-time PCR (LightCycler Instrument, Roche Diagnostics) and the melting curve analysis method. There was no significant difference in the frequency of genotypes for the two polymorphisms between PCa patients and controls (Χ2 = 0.857, p = 0.355 for IL-female 1; Χ2 = 0.026, p = 0.872 for IL-10). Carriers of the IL-10-1082A>G variant were found to be associated with the Gleason score (GS) > 7 (AA versus GA+GG, OR = 3.47, 95% CI 1.11-10.88, p = 0.033). There was no significa...