scholarly journals Polymorphic locus rs1061624 of the ТNFR2 gene is associated with the development of arterial hypertension in males

Kardiologiia ◽  
2020 ◽  
Vol 60 (8) ◽  
pp. 78-83
Author(s):  
M. I. Moskalenko ◽  
I. V. Ponomarenko ◽  
S. N. Milanova ◽  
I. N. Verzilina ◽  
O. A. Efremova ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Arterial Hypertension ◽  
Binding Sites ◽  
Polymorphic Locus ◽  
Group Analysis ◽  
Control Group ◽  
Chain Reaction ◽  
Regulatory Potential ◽  
Polymerase Chain ◽  
Regulatory Significance

Aim To study the involvement of cytokine polymorphous loci in development of arterial hypertension (AH) in men from the Central Black Earth region of Russia.Materials and methods 821 men were evaluated, including 564 patients with AH and 257 individuals of the control group. Analysis of 8 cytokine mononucleotide polymorphisms (MNP) was performed using the real-time polymerase chain reaction with TagMan probes. Statistical analysis was performed with the STATISTICA (v.10.0) and PLINK (v.1.06) software. The regulatory potential of MNP was analyzed with the HaploReg (v.4.1) service (http://archive.broadinstitute.org).Results The rs1061624 ТNFR2 polymorphous locus was associated with development of AH in men in recessive (odd ratio (OR), 0.33; 95 % confidence interval (CI): 0.18–0.61, рperm=0.0004) and additive (OR, 0.50, 95 % CI: 0.34–0.74, рperm=0.0006) genetic models and exerted a protective effect in development of AH. The rs1061624 MNP of the ТNFR2 gene has a regulatory significance; it is located in the DNA sites hypersensitive to the action of DNAase 1 and in binding sites for transcriptional factors and histones that mark enhancers and promoters in different organs and tissues.Conclusion The rs1061624 ТNFR2 gene polymorphism is involved in the development of AH in men of the Central Black Earth region of Russia.

Quantitative PCR Analysis for Bcl-2/IgH in a Phase III Study of Yttrium-90 Ibritumomab Tiuxetan As Consolidation of First Remission in Patients With Follicular Lymphoma

2009 ◽  
Vol 27 (36) ◽  
pp. 6094-6100 ◽  
Author(s):  
Lindsey Goff ◽  
Karin Summers ◽  
Sameena Iqbal ◽  
Jens Kuhlmann ◽  
Michael Kunz ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Follicular Lymphoma ◽  
Quantitative Polymerase Chain Reaction ◽  
Phase Iii ◽  
Pcr Analysis ◽  
Control Group ◽  
Ibritumomab Tiuxetan ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Yttrium 90

Purpose The randomized First-Line Indolent Trial (FIT) was conducted in patients with advanced follicular lymphoma (FL), to evaluate the safety and efficacy of yttrium-90 (90Y) ibritumomab tiuxetan given as consolidation of complete or partial remission. This study of minimal residual disease was undertaken in parallel, to determine the rate of conversion from bcl-2 polymerase chain reaction (PCR) –detectable to –undetectable status and the corresponding effect on progression-free survival (PFS). Patients and Methods Blood samples from 414 patients (90Y-ibritumomab, n = 208; control, n = 206) were evaluated using real-time quantitative polymerase chain reaction (RQ-PCR); 186 were found to have the bcl-2 rearrangement and were thus eligible for inclusion in the RQ-PCR analysis. Results Overall, 90% of treated patients converted from bcl-2 PCR–detectable to –undetectable disease status, compared with 36% in the control group. Treatment significantly prolonged median PFS in patients converting to bcl-2 PCR-undetectable status (40.8 v 24.0 months in the control group; P < .01, hazard ratio [HR], 0.399). In patients who had bcl-2 PCR-detectable disease at random assignment, treatment significantly prolonged median PFS (38.4 v 8.2 months in the control group; P < .01, HR, 0.293). Conclusion Eradication of PCR-detectable disease occurred more frequently after treatment with 90Y-ibritumomab tiuxetan and was associated with prolongation of PFS.

scholarly journals Pilot study of DNA methylation in the pathogenesis of chronic rhinosinusitis with nasal polyps

2015 ◽  
Vol 53 (4) ◽  
pp. 345-352
Author(s):  
Y.B. Zheng ◽  
Y. Zhao ◽  
L.Y. Yue ◽  
P. Lin ◽  
Y.F. Liu ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Polymerase Chain Reaction ◽  
Chronic Rhinosinusitis ◽  
Nasal Polyps ◽  
Cpg Islands ◽  
Inferior Turbinate ◽  
Control Group ◽  
Chain Reaction ◽  
Bisulphite Sequencing ◽  
Polymerase Chain

Background: DNA methylation has been implicated in the pathogenesis of allergy and atopy. This study aimed to identify whether DNA methylation also plays an important role in the pathogenesis of nasal polyps (NP). Methodology: NP tissues were obtained from 32 patients with chronic rhinosinusitis with bilateral NP. Biopsies of inferior turbinate mucosa (ITM) were taken from 18 patients who underwent rhinoseptoplasty (control group). The methylated genes, which were detected by DNA methylation microarray, were validated by methylation-specific polymerase chain reaction, bisulphite sequencing, real-time polymerase chain reaction and immunohistochemistry. Results: DNA methylation microarray identified 8,008 CpG islands in 2,848 genes. One hundred and ninety-eight genes were found to have a methylated signal in the promoter region in NP samples compared with ITM samples. The four top genes that changed, COL18A1, EP300, GNAS and SMURF1, were selected for further study. The methylation frequency of COL18A1 was significantly higher in NP samples than in ITM samples. Conclusions: DNA methylation might play an important role in the pathogenesis of NP. Promoter methylation of COL18A1 was found to be significantly increased in NP tissues, further studies are necessary to confirm the significance of these epigenetic factors in the mechanisms underlying the development or persistence of NP.

scholarly journals Aberrant UBR4 expressions in Hirschsprung disease patients

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Gunadi ◽  
Alvin Santoso Kalim ◽  
Estelita Liana ◽  
Aditya Rifqi Fauzi ◽  
Dian Nirmala Sirait ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Anorectal Malformation ◽  
E3 Ligase ◽  
Hirschsprung Disease ◽  
Control Group ◽  
Chain Reaction ◽  
Expression Change ◽  
Polymerase Chain ◽  
Hscr Patient

Abstract Background Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesian HSCR patients. Methods We analyzed the UBR4 expressions in the colons of HSCR patient and anorectal malformation (ARM) patient as control by real-time polymerase chain reaction (qPCR). Results Thirty-seven patients with non-syndromic HSCR and eighteen controls were involved in this study. qPCR revealed that the UBR4 expression was strongly decreased (0.77-fold) in the ganglionic group of patients with HSCR compared to the control group with ARM (ΔCT 2.43 ± 0.36 vs. 2.05 ± 0.69; p = 0.009), whereas the UBR4 expression was also significantly reduced (0.79-fold) in the aganglionic group of patients with HSCR compared to the control group with ARM (ΔCT 2.39 ± 0.46 vs. 2.05 ± 0.69; p = 0.044). However, the UBR4 expression change was not associated with gender (p = 0.35 and 0.80), nor with degree of aganglionosis both in ganglionic and aganglionic colons (p = 0.72 and 0.73), respectively. Conclusion Our study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients.

The RPMI-1640 vitamin mixture promotes bovine blastocyst development in vitro and downregulates gene expression of TXNIP with epigenetic modification of associated histones

2017 ◽  
Vol 9 (1) ◽  
pp. 87-94 ◽  
Author(s):  
S. Ikeda ◽  
M. Sugimoto ◽  
S. Kume
Keyword(s):  
Polymerase Chain Reaction ◽  
Treated Group ◽  
Preimplantation Embryos ◽  
Control Group ◽  
Chain Reaction ◽  
Blastocyst Development ◽  
Polymerase Chain ◽  
Vitamin Mixture

Diverse environmental conditions surrounding preimplantation embryos, including available nutrients, affect their metabolism and development in both short- and long-term manner. Thioredoxin-interacting protein (TXNIP) is a possible marker for preimplantation stress that is implicated in in vitro fertilization- (IVF) induced long-term DOHaD effects. B vitamins, as participants in one-carbon metabolism, may affect preimplantation embryos by epigenetic alterations of metabolically and developmentally important genes. In vitro-produced bovine embryos were cultured with or without Roswell Park Memorial Institute 1640 vitamin mixture, containing B vitamins and B vitamin-like substances, from day 3 after IVF and we evaluated blastocyst development and TXNIP messenger RNA (mRNA) expression in the blastocysts by reverse transcription-quantitative polymerase chain reaction. The degree of trimethylation of histone H3 lysine 27 (H3K27me3) at TXNIP promoter was examined semi-quantitatively by chromatin immunoprecipitation polymerase chain reaction. Total H3K27me3 were also compared between the groups by Western blot analysis. The vitamin treatment significantly increased the rates of blastocyst development (P<0.05) and their hatching (P<0.001) from the zona pellucida by day 8. The mRNA expression of TXNIP was lower (P<0.01) in blastocysts in the vitamin-mixture-treated group concomitant with higher (P<0.05) level of H3K27me3 of its promoter compared with the control group. The total H3K27me3 in the vitamin-mixture-treated group was also higher (P<0.01) than that in the control group. The epigenetic control of genes related to important metabolic processes during the periconceptional period by nutritional conditions in utero and/or in vitro may have possible implication for the developmental programming during this period that may impact the welfare and production traits of farm animals.

scholarly journals Association study of the Ile349val polymorphism of the gene ADH1C and alcohol dependence

2011 ◽  
Vol 60 (1) ◽  
pp. 7-10 ◽  
Author(s):  
André Soares Rebello ◽  
Rodrigo Moura-Neto ◽  
Maria da Glória da Costa Carvalho
Keyword(s):  
Polymerase Chain Reaction ◽  
Alcohol Dehydrogenase ◽  
Alcohol Dependence ◽  
Alcoholics Anonymous ◽  
Control Group ◽  
Chain Reaction ◽  
Alcohol Dependence Syndrome ◽  
Genotype Difference ◽  
Polymerase Chain ◽  
Janeiro City

OBJECTIVE: The aim of this study was to investigate the polymorphism Ile349Val of the enzyme alcohol dehydrogenase ADH1C gene among individuals with alcohol dependence syndrome (ADS) attending Alcoholics Anonymous (AA) meetings. METHODS: A total of 120 subjects residing in Rio de Janeiro city participated in this study. Subjects were divided into two groups: a group consisting of 54 individuals from the ADS group and 66 individuals that declared not having any alcohol dependence (control group). DNA was extracted from mouth epithelial cells by phenol-chloroform method and further submitted to amplification by polymerase chain reaction (PCR). RESULTS: Our results did not show differences between the genotypes of control individuals and ADS subjects. Nevertheless, we found increased rates of alcoholism in families of ADS subjects as compared to controls. CONCLUSIONS: Our results did not show any genotype difference on the ADH1C gene when control and AA genotypes are compared.

scholarly journals Influence of SARS-CoV-2 Virus Infection on the Course of Psoriasis during Treatment with Biological Drugs

Medicina ◽  
2021 ◽  
Vol 57 (9) ◽  
pp. 881
Author(s):  
Magdalena Mroz ◽  
Szymon Mućka ◽  
Martyna Miodońska ◽  
Dominika Ziolkowska ◽  
Ewa Hadas ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Biological Treatment ◽  
Systemic Treatment ◽  
Control Group ◽  
Similar Data ◽  
Chain Reaction ◽  
Positive Real ◽  
Psoriasis Area Severity Index ◽  
Polymerase Chain ◽  
The Impact

Background and objectives: Biological treatment is an important and effective therapy for psoriasis. During the COVID-19 pandemic, it remains unclear whether this type of therapy affects the course of SARS-CoV-2 infection. The aim of the study was to observe patients with psoriasis undergoing biological or other systemic treatment in relation to the impact of SARS-CoV-2 infection on the course of psoriasis and the COVID-19 disease itself. Materials and methods: A one-year observational study included 57 patients with diagnosed psoriasis who qualified for biological treatment and a group of 68 similar patients who were administered a different systemic treatment. Patients were analyzed monthly for psoriasis (including Psoriasis Area Severity Index (PASI) assessment) and constantly for SARS-CoV-2 infection (telephone contact). Cases of COVID-19 were confirmed by Polymerase Chain Reaction (PCR) at the study center. Results: SARS-CoV-2 infection was confirmed by a positive Real Time Polymerase Chain Reaction (RT-PCR) test in eight patients (14.0%) with psoriasis on biological therapy. None of the cases in this group required hospitalization for COVID-19. Similar data were obtained in the control group. Specifically, 11 (16%) patients were confirmed to be infected with SARS-CoV-2. These results were statistically comparable (p > 0.05). In the group of patients undergoing biological treatment, six (75%) of eight patients developed an exacerbation of psoriasis during SARS-CoV-2 infection, and similar results were noted in the control group, with eight (72%) patients experiencing an exacerbation of psoriasis. Conclusions: Patients with psoriasis who were administered biological treatment or other systemic therapy may experience a mild course of SARS-CoV-2 infection but might also experience a temporary exacerbation of skin lesions.

scholarly journals Establishing and evaluation of a polymerase chain reaction for the detection of Echinococcus multilocularis in human tissue

2021 ◽  
Vol 15 (2) ◽  
pp. e0009155 ◽  
Author(s):  
Johannes Grimm ◽  
Julian Krickl ◽  
Annika Beck ◽  
Juliane Nell ◽  
Monika Bergmann ◽  
...  
Keyword(s):  
Monoclonal Antibody ◽  
Polymerase Chain Reaction ◽  
Echinococcus Multilocularis ◽  
Human Tissue ◽  
Pcr Analysis ◽  
Control Group ◽  
Chain Reaction ◽  
Robust Detection ◽  
Polymerase Chain ◽  
Laminated Layer

Background Alveolar echinococcosis (AE) is caused by metacestode larva of the tapeworm Echinococcus multilocularis. AE diagnostics currently rely on imaging techniques supported by serology, but unequivocal detection of AE is difficult. Although polymerase chain reaction (PCR)-based methods to detect tapeworm DNA in biopsies have been suggested for several species, no validated protocol adhering to accepted guidelines has so far been presented for AE diagnostics. We herein established a PCR protocol for metacestode biopsies and technically evaluated the method using isolated parasite DNA and cells, biopsies of clinically relevant material, and formalin fixed paraffin-embedded (FFPE) human tissue blocks. We compared the results with an immunochemical (IHC) approach using the monoclonal antibody Em2G11 specific for the antigen Em2 of E. mulitlocularis. Methodology/Principal findings Based on tapeworm 12S rDNA sequences we established and validated a PCR protocol for robust detection of as little as 50 parasite cells per specimen and report 127 cases of positive identification of Echinococcus species in samples from humans and animals. For further validation, we analyzed 45 liver, heart, brain, and soft tissue samples as well as cytological probes of aspirates of FFPE-material from 18 patients with clinically confirmed AE. Of each patient we analyzed (i) fully viable lesions with laminated layer; (ii) tissue with mAbEm2G11-positive small particles of E. multilocularis (spems); (iii) mAbEm2G11-negative tissue adjacent to the main lesion; and (iv) lymph node tissue with mAbEm2G11-positive spems. To identify the areas for the PCR-based approach, we performed IHC-staining with the monoclonal antibody Em2G11. Micro-dissected tissue of these areas was then used for PCR-analysis. 9 of 15 analyzed samples with viable E. multilocularis lesions with laminated layer were positive by PCR. Of this group, all samples preserved for less than 6 years (6/6) were tested positive. 11 of 15 samples of spems and 7 of 9 samples of the control group mAbEm2G11-negative tissue were negative by PCR. We further show that all probes from lymph nodes with spems are PCR negative. Conclusions/Significance We present a sensitive PCR method for the detection of E. multilocularis in human tissue, particularly in fresh biopsy material and tissue blocks stored for less than 5 years. While the diagnostic sensitivity of material containing only spems was higher using IHC, PCR detection was possible in IHC negative liver tissue and in patients with negative serology. Our results support the view that spems do not contain parasitic DNA or viable cells of the parasite. spems thus most probably do not directly contribute to metastasis formation during AE.

scholarly journals SIRT1 (rs3740051) role in pituitary adenoma development

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Rasa Liutkeviciene ◽  
Alvita Vilkeviciute ◽  
Greta Morkunaite ◽  
Brigita Glebauskiene ◽  
Loresa Kriauciuniene
Keyword(s):  
Polymerase Chain Reaction ◽  
Pituitary Adenoma ◽  
Polymerase Chain Reaction Method ◽  
Control Group ◽  
Study Group ◽  
Chain Reaction ◽  
Lower Odds ◽  
Reaction Method ◽  
Non Invasive ◽  
Polymerase Chain

Abstract Background Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA). Methods The study group included 142 patients with pituitary adenoma (PA) and the control group consisted of 826 healthy people. The genotyping of SIRT1 (rs4746720, rs3740051) was carried out using the real-time polymerase chain reaction method. Results Statistically significant results were obtained in the analysis of SIRT1 rs3740051. Significant differences in genotype (G/G, G/A, A/A) distribution were obtained comparing patients with PA without recurrence and PA with recurrence (0, 17.9, 82.1% vs. 6.7, 6.7, 86.7%, respectively, p = 0.022). Also, statistically significant differences were observed when comparing the genotype (G/G, G/A, A/A) distribution in the non-invasive PA group and the invasive PA group (3.4, 25.9, 70.7% vs. 0, 8.3, 91.7%, respectively, p = 0.003), and allele G was less frequently observed in invasive PA, than in non-invasive PA (4.2% vs. 16.4%, p < 0,001). Further analysis revealed that G/A (OR = 0.261; 95% CI:0.099–0.689; p = 0.007) and each allele A (OR = 0.229; 95% CI:0.091–0.575; p = 0.002) were associated with lower odds of occurring an invasive PA. Conclusions Our study revealed that SIRT1 rs3740051 is associated with PA recurrence and invasiveness. The haplotype containing alleles C-A in rs12778366-rs3740051 was found to be associated with increased odds of PA development as well.

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