scholarly journals The association of the IL-1ß-31 polymorphism and the development of neuroinfections

2016 ◽  
Vol 85 (4) ◽  
pp. 289-293
Author(s):  
Grażyna Biesiada ◽  
Jacek Czepiel ◽  
Anna Piątek ◽  
Malwina Birczyńska ◽  
Justyna Żurańska ◽  
...  
Keyword(s):  
Inflammatory Response ◽  
Viral Meningitis ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Prognostic Role ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Laboratory Results ◽  
Genes Encoding ◽  
Wbc Count

Introduction. Inflammation of the meninges can have various clinical courses, from mild, self-limiting in some viral neuroinfections to severe, sometimes ending in death. The pro-inflammatory cascade and defects in the inhibitors of the inflammatory response play an important prognostic role. Single nucleotide polymorphisms (SNPs) of the genes encoding cytokines, influence the severity of the inflammatory response.Aim. The aim of this study was to evaluate the effect of selected polymorphisms of proinflammatory cytokines IL-1ß, TNF-? and IL-8 on the development of neuroinfections.Material and Methods. We evaluated the laboratory results of 30 patients treated for bacterial and viral meningitis and compared those to 30 healthy volunteers. The following 4 variants were analyzed for occurrence of genetic polymorphism in patients with meningitis versus the control group: IL-1ß 3953, IL-1ß -31, TNF-? -308, and IL-8 781. Then, we assessed the association between these genetic polymorphisms and the inflammatory response during the course of meningitis.Results and Conclusions. We observed that polymorphism of the IL-1ß-31 significantly differs between patients and healthy subjects, the IL-1ß -31AA polymorphism existed only in healthy individuals (p < 0.001). The WBC count was dependent on the TNF-? -308 polymorphism with a statistically significant difference (p = 0.021) occurring among persons with variants AA and AG. In conclusion the study showed that the presence of the AA genotype of IL-1ß-31polymorphism may have a protective effect on the development of meningitis. This polymorphism was not observed in any patient with meningitis.

The association of the IL-1β-31 polymorphism and the development of neuroinfections

10.20883/156 ◽  
2016 ◽  
Vol 85 (4) ◽  
pp. 289
Author(s):  
Grażyna Biesiada ◽  
Jacek Czepiel ◽  
Anna Piątek ◽  
Malwina Birczyńska ◽  
Justyna Żurańska ◽  
...  
Keyword(s):  
Inflammatory Response ◽  
Viral Meningitis ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tnf Α ◽  
Significant Difference ◽  
Laboratory Results ◽  
Genes Encoding ◽  
Wbc Count

Introduction. Inflammation of the meninges can have various clinical courses, from mild, self‑limiting in some viral neuroinfections to severe, sometimes ending in death. The pro‑inflammatory cascade and defects in the inhibitors of the inflammatory response play an important prognostic role. Single nucleotide polymorphisms (SNPs) of the genes encoding cytokines, influence the severity of the inflammatory response.Aim. The aim of this study was to evaluate the effect of selected polymorphisms of proinflammatory cytokines IL-1β, TNF‑α and IL-8 on the development of neuroinfections.Material and Methods. We evaluated the laboratory results of 30 patients treated for bacterial and viral meningitis and compared those to 30 healthy volunteers. The following 4 variants were analyzed for occurrence of genetic polymorphism in patients with meningitis versus the control group: IL-1β 3953, IL-1β -31, TNF‑α -308, and IL-8 781. Then, we assessed the association between these genetic polymorphisms and the inflammatory response during the course of meningitis.Results and Conclusions. We observed that polymorphism of the IL-1β-31 significantly differs between patients and healthy subjects, the IL-1β -31AA polymorphism existed only in healthy individuals (p < 0.001). The WBC count was dependent on the TNF‑α -308 polymorphism with a statistically significant difference (p = 0.021) occurring among persons with variants AA and AG. In conclusion the study showed that the presence of the AA genotype of IL-1β-31polymorphism may have a protective effect on the development of meningitis. This polymorphism was not observed in any patient with meningitis.

scholarly journals Evaluation of the Association between Programmed Cell Death-1 Gene Polymorphisms and Hepatocellular Carcinoma Susceptibility in Turkish Subjects. A Pilot Study

2020 ◽  
Author(s):  
Abdullah Fatih Demirci ◽  
Coskun Ozer Demirtas ◽  
Fatih Eren ◽  
Demet Yilmaz ◽  
Caglayan Keklikkiran ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Death ◽  
Programmed Cell Death ◽  
Turkish Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Programmed Cell Death 1 ◽  
Significant Difference ◽  
And Control

Background and Aims: Programmed cell death-1 (PD-1) has a vital role in regulating T-cell function, and immune escape mechanism of cancer cells. It was shown that there could be a relationship between single nucleotide polymorphisms (SNPs) in the PD-1 gene and susceptibility to hepatocellular carcinoma (HCC) based on various studies. We aimed to investigate the role of three SNPs within the PD-1 gene in susceptibility to HCC in the Turkish population. Methods: Single nucleotide polymorphisms of PD-1.1, 1.5, and 1.6 were genotyped by using TaqMan Allelic Discrimination Assays in blood samples of 137 HCC and 136 control subjects, matched for age and gender. The genotype, allele and haplotype frequencies were compared in HCC and control groups using logistic regression analysis. Results: Genotype distributions of PD-1.1, PD-1.5 and PD-1.6 SNPs were in Hardy-Weinberg equilibrium. No significant difference was observed in the genotype distribution of PD-1.1, PD-1.5 and PD-1.6 polymorphisms among gender and age-matched HCC (M/F: 96/41; mean age: 61.4 ±11.7 years) and control group (M/F: 94/42; mean age: 61.4±10.1). In the haplotype analysis of PD-1.1/PD-1.5/PD-1.6, no significant difference was found among HCC and control group adjusted for sex and age (all p values>0.1). Conclusion: Our findings, firstly reporting the association of PD-1.5 polymorphism with HCC, and PD-1.1 and PD-1.6 with HCC in the Turkish population, suggest that PD-1 polymorphisms are not predisposing factors for HCC development. Future studies with larger sample sizes and different ethnic populations are required to validate our findings.

COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ana Paula V. D. Alves ◽  
Amanda B. Freitas ◽  
José Eduardo Levi ◽  
Antonio G. Amorim Filho ◽  
Lucas A. M. Franco ◽  
...  
Keyword(s):  
Control Group ◽  
Case Group ◽  
Cervical Insufficiency ◽  
Nucleotide Polymorphisms ◽  
Normal Allele ◽  
Wild Type ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
In The Wild ◽  
Inflammatory Processes

Abstract Objectives To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. Methods Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in COL1A1, rs1882435 in COL4A3, rs2277698 in TIMP2, and rs1800468 in TGFB1. Results We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011). Conclusions The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

scholarly journals Association between single nucleotide polymorphisms rs72525532, rs45596738, rs148759216, rs188133936, and rs114627122 of APOA5 gene in children and adolescents with metabolic syndrome

2019 ◽  
Vol 21 (4) ◽  
pp. 175-180
Author(s):  
Samaneh Salehi ◽  
Modjtaba Emadi-Baygi ◽  
Parvaneh Nikpour ◽  
Roya Kelishadi
Keyword(s):  
Metabolic Syndrome ◽  
Single Nucleotide Polymorphisms ◽  
Children And Adolescents ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Normal Children ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Apoa5 Gene

Background and aims: The APOA5 gene is one of the genes involved in metabolic syndrome (MetS), as a constellation of several cardiovascular disease (CVD) risk factors. The present study evaluated the possible associations between five single nucleotide polymorphisms (SNPs) in the microRNA target site (miR-TS-SNPs) of the APOA5 gene with MetS. Methods: This case-control study included 57 MetS cases, along with 59 normal children and adolescents aged 9-18 years. All miR-TSSNPs rs188133936, rs72525532, rs45596738, rs148759216, and rs114627122 were genotyped by polymerase chain reaction-sequencing. Independent t-test, as well as the chi-square test and logistic regression analysis was used to determine the association of SNPs with MetS risk and its clinical components. Results: The mean (SD) age of MetS participants and controls was 12.35 (0.25) and 13.39 (0.38) years, respectively. Although no nucleotide changes were present in rs188133936, rs45596738, rs148759216, and rs114627122, a greater frequency of A insertion was detected in rs72525532 in MetS cases compared with the control group (P=0.012). This variant showed a significant difference in triglycerides (TG) and high-density lipoprotein cholesterol (HDL) levels between different genotype groups (P<0.0001 and P=0.05, respectively) in controls. Furthermore, AA insertion genotype was correlated with an increased risk of MetS (Odds ratio [95% CI] = 8.12 [0.966-68.27], P=0.05). Conclusion: This study was the first to investigate the association between rs188133936, rs45596738, rs148759216, rs76463524, and rs72525532 variants of the APOA5 gene and MetS. Our findings reveal that rs72525532 might have an impact on TG, HDL levels, and the risk of MetS

Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm Infants

2019 ◽  
Vol 16 (4) ◽  
pp. 335-339
Author(s):  
Ji Xu ◽  
Huitao Li ◽  
Jinjie Huang ◽  
Zhangxing Wang ◽  
Yun Li ◽  
...  
Keyword(s):  
Brain Injury ◽  
Single Nucleotide Polymorphisms ◽  
Preterm Infants ◽  
Control Group ◽  
Blood Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Potential Marker ◽  
Increased Risk ◽  
Significant Difference

Background: Single Nucleotide Polymorphisms (SNPs) in the Erythropoietin (EPO) promoter region have been shown to influence EPO protein expression, and high blood levels of EPO are associated with an increased risk of brain injury in very preterm infants. Here, we investigated the genotype distributions and association of three EPO gene polymorphisms (rs1617640, rs551238, and rs507392) with the risk of brain injury in preterm infants. Methods: 304 preterm infants with a gestational age of 28 to 34 weeks were enrolled in this study. Brain injury was evaluated by brain ultrasound and MRI examination. EPO gene Single- Nucleotide Polymorphisms (SNPs) were genotyped by the Agena MassARRAY system, and their association with brain injury susceptibility in preterm infants was analyzed. Results: EPO polymorphism rs551238 showed a significant difference in the genotypic distributions between the brain injury group and the control group, and was significantly correlated with reduced susceptibility to brain injury in preterm infants according to the results obtained from both the additive model (OR = 0.520, 95% CI: 0.339-0.799, P = 0.003) and the dominant model (OR = 0.523, 95% CI: 0.332-0.853, P = 0.009). EPO polymorphisms rs1617640 and rs507392 did not meet the Hardy-Weinberg equilibrium in the study population (P < 0.05) and were, thus, not subjected to further analysis for their impacts on brain injuries. Conclusion: The “C” allele of rs551238 was correlated with a reduced risk of brain injury in preterm infants which may serve as a potential marker for brain injury prediction in preterm infants.

scholarly journals Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Yan-Hong Li ◽  
Jun-Yi Luo ◽  
Bin-Bin Fang ◽  
Guo-Li Du ◽  
Ting Tian ◽  
...  
Keyword(s):  
Recessive Model ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Significant Difference ◽  
And Control ◽  
Control Study ◽  
Uygur Population

Abstract Background CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China. Results In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants. Conclusions Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.

scholarly journals Interleukin-18 polymorphism as a diagnostic tumor marker for hepatocellular carcinoma in patients with hepatitis C-related cirrhosis

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ayman Abdelghaffar Eldesoky ◽  
Nancy Abdel Fattah Ahmed ◽  
Hosam Eldeen Zaghloul ◽  
Amr Ahmed Abdel Aziz
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C ◽  
Tumor Marker ◽  
Subsequent Development ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Interleukin 18 ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Cirrhotic Patients

Abstract Background Egypt has the highest hepatitis C virus prevalence worldwide where about 24% of the people are estimated to carry HCV and more than 50% of blood donors have anti-HCV in some towns. The burden of hepatocellular carcinoma has been increasing in Egypt with a doubling in the incidence rate in the past 10 years. Thus, the aim of the present study was to analyze the interleukin-18 single nucleotide polymorphisms (SNPs) as a diagnostic tumor marker for hepatocellular carcinoma in patients with hepatitis C-related cirrhosis. Results This study included 33 hepatocellular carcinoma (HCC) complicating HCV-related cirrhosis patients, 37 cirrhotic patients without HCC (cirrhosis group), and 20 healthy individuals who were included as a control for 9 months of follow-up. SNPs of the IL-18 gene were genotyped by polymerase chain reaction. There was a statistically significant difference in the GG genotype in the HCC group in comparison with the control group (P = 0.04). There was a statistically significant difference in the G allele in the cirrhosis and HCC groups in comparison with the control group (p1 < 0.001 and p2 = 0.03, respectively). Patients with GC genotype have a risk for developing HCC by 6.33-folds more than those with GG genotype while patients with GC genotype have a risk for developing cirrhosis by 5.43-folds more than those with GG genotype, and cirrhotic patients with CC and GC genotype had a risk for developing HCC by 1.17-folds more than those with GG genotype. Conclusion Our findings revealed that the analysis of IL-18 single nucleotide gene polymorphism could be a valuable marker for the prediction of progress towards cirrhosis in chronic HCV patients and also to subsequent development of HCC in HCV cirrhotic patients proved by the results of both GG genotype and its G allele; also, cirrhotic patients with CC and GC genotype have a risk for developing HCC by 1.17-folds more than those with GG genotype.

scholarly journals Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study

2021 ◽  
pp. 138-144
Author(s):  
Wei-De Lin ◽  
Fuu-Jen Tsai
Keyword(s):  
Multiple Myeloma ◽  
Gaucher Disease ◽  
Plasma Cells ◽  
University Hospital ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Allele Distribution ◽  
Significant Difference ◽  
Central Taiwan

<b><i>Introduction:</i></b> Multiple myeloma (MM) is an incurable, biologically heterogeneous disease of the plasma cells, associated with older age and is more common in men. Gaucher disease, caused by mutation in acid β-glucosidase (glucocerebrosidase, <i>GBA</i>) gene, has been linked to multiple cancers, especially MM. Pathological accumulation of glucosylceramide and complex glycosphingolipids coupled with chronic inflammation may be the cause of cancer in patients with Gaucher disease. In this study, we hypothesized patients with MM have mutations in the <i>GBA</i> gene and analyzed patients with MM to determine whether they have a higher frequency of <i>GBA</i> variants. <b><i>Methods:</i></b> Twenty-four MM samples were acquired from the Human Biobank, China Medical University Hospital, Taichung, Taiwan. <i>GBA</i> mutations were detected by polymerase chain reaction-directed DNA sequencing. <b><i>Results:</i></b> We found no mutations in the coding regions of <i>GBA</i> in any of the 24 study subjects. However, two single-nucleotide polymorphisms, rs2070679 and rs2361534, were identified. A significant difference was observed between the study and control groups (<i>p</i> = 0.0028) in rs2361534 allele distribution, with the C allele frequency being higher in patients (1/48, 2.1%) than in the control group (5/3030, 0.16%, Taiwan Biobank). <b><i>Conclusion:</i></b> In this study, the sample size was limited and GBA enzyme activity was not measured; therefore, we could not establish a direct correlation between MM and <i>GBA</i> mutations. However, the association of rs2361534 suggests that regions around this single-nucleotide polymorphism may be involved in MM. The relationship between MM and <i>GBA</i> mutations remains unclear. A large sample is required for a detailed analysis of this potential relationship.

scholarly journals Role of interleukins 12B and 17A genetic variation in house dust mites allergy

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Asmaa Mostafa Ammar ◽  
Elham Abbas EL. Zayyat ◽  
Amira EL. Saady Khayyal ◽  
Dina Mamdouh Hamdy ◽  
Aya EL-Gendy ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
House Dust ◽  
Allergic Diseases ◽  
House Dust Mites ◽  
Nucleotide Polymorphisms ◽  
Dust Mites ◽  
Single Nucleotide ◽  
Length Polymorphisms ◽  
Significant Difference ◽  
Genes Encoding

Abstract Background The house dust mites (HDM) constitute a major cause of allergic diseases all over the world. Genes encoding interleukins 12B and 17A which determine the course of T cell-mediated immune response are prime candidates as allergic disease susceptibility. The purpose of this study was to evaluate whether a single-nucleotide polymorphisms (SNP) of interleukins 12B + 1188A/C (rs3212227) and 17A −197G/A (rs2275913) confers susceptibility to HDM allergic diseases. Through a case-control study, 120 subjects served as 60 dust mites' allergic patients and 60 healthy non-allergic controls. Total immunoglobulin (Ig) E level, eosinophilic count, serum interleukins 4, 10, 12B, and 17A levels for the studied subjects were measured. Then, genotyping of single-nucleotide polymorphisms (SNPs) at +1188A/C for IL12B and −197G/A for IL17A gene were conducted using restriction fragment length polymorphisms (RFLP-PCR). Results The present study showed that in HDMs' allergic subjects there was a significant increase in IL12B (+1188 A/C) and IL17A (−197 G/A) genotype variants compared to that of the controls. There was a significant increase in total IgE levels, eosinophil counts, and the levels of both IL-4 and IL-17A, while IL12B was significantly lower in patients compared to that of the controls. There was no significant difference in IL-10 levels between patients and controls.                                                                             Conclusion Our findings indicate that IL12B (+1188 A/C) and IL17A (−197G/A) might be associated with an increase in the susceptibility to dust mites’ allergic patients.

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske
Keyword(s):  
Late Onset ◽  
Adult Population ◽  
Additive Models ◽  
Atopic Asthma ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

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