scholarly journals Relationship of genetic polymorphism of the acute phase marker of inflammation rs12218 of the SAA1 gene with clinical phenotypes of juvenile idiopathic arthritis

2021 ◽  
Vol 15 (2) ◽  
pp. 23-28
Author(s):  
M. Yu. Krylov ◽  
E. S. Fedorov ◽  
S. O. Salugina
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Clinical Phenotype ◽  
Control Group ◽  
Chain Reaction ◽  
Clinical Phenotypes ◽  
Clinical Variants ◽  
Polymerase Chain ◽  
Relationship Of ◽  
Systemic Onset

Objective: to test the hypothesis of a possible relationship between the rs12218 polymorphism of the SAA1 gene and a predisposition to different clinical phenotypes of juvenile idiopathic arthritis (JIA).Patients and methods. Genetic typing of rs12218 polymorphism was carried out in 142 children: 77 of them were diagnosed with JIA, including 30 patients with oligoarthritis (oJIA), 20 with polyarthritis (pJIA), and 27 with systemic onset (sJIA). Sixty five healthy volunteers were included in the control group. The rs12218 polymorphism of the SAA1 gene was investigated using real-time polymerase chain reaction.Results and discussion. A high risk of developing the clinical phenotype of oJIA in carriers of the C mutant allele of the rs12218 T/C polymorphism of the SAA1 gene was established. Statistically significant differences between the clinical phenotypes of oJIA and sJIA in the frequency distribution of genotypes and alleles of rs12218 T/C polymorphism of the SAA1 gene are shown.Conclusion. The results of the studies have confirmed the important role of the rs12218 T/C polymorphism of the SAA1 gene in the formation of susceptibility to clinical variants of JIA.

scholarly journals The role of the immune response mediator genes polymorphism in the predisposition to juvenile idiopathic arthritis

2019 ◽  
Vol 8 (4) ◽  
Author(s):  
Liliia Sh. Nazarova ◽  
Ksenia V. Danilko ◽  
Viktor A. Malievsky ◽  
Akhat B. Bakirov ◽  
Tatiana V. Viktorova
Keyword(s):  
Immune Response ◽  
Juvenile Idiopathic Arthritis ◽  
Control Group ◽  
Polymorphic Loci ◽  
Republic Of Bashkortostan ◽  
Clinical Variants ◽  
The Republic ◽  
Relationship Of ◽  
The Relationship

Objective ― The aim of the work was to study the contribution of the immune response mediator genes polymorphism (TNFA rs1800629, LTA rs909253, IL1B rs16944, IL2-IL21 rs6822844, IL2RA rs2104286, IL6 rs1800795, IL10 rs1800872, MIF rs755622, CTLA4 rs3087243, NFKB1 rs28362491, PTPN22 rs2476601, PADI4 rs2240336) to the formation of the predisposition to juvenile idiopathic arthritis (JIA) and its clinical variants. Material and Methods ― The JIA group included 330 patients and the control group – 342 volunteers without autoimmune diseases from the Republic of Bashkortostan, Russia. Genotyping was conducted by the real-time polymerase chain reaction. Results ― Taking into account the differences by sex, it was established, that the alleles/genotypes of the TNFA rs1800629, LTA rs909253, IL2-IL21 rs6822844, PTPN22 rs2476601 polymorphic loci and the TNFA rs1800629*G – LTA rs909253*G haplotype are associated with the development of JIA as a whole (p<0.05); alleles/genotypes of the LTA rs909253, IL1B rs16944, IL2-IL21 rs6822844, IL2RA rs2104286, IL6 rs1800795, IL10 rs1800872, MIF rs755622, CTLA4 rs3087243, NFKB1 rs28362491, PTPN22 rs2476601 polymorphic loci and the TNFA rs1800629*G – LTA rs909253*G haplotype – with some of JIA clinical variants (p<0.05). Conclusion ― In this work, the relationship of the alleles, genotypes and haplotypes of a number of the immune response mediator genes polymorphic loci with the risk of the development of JIA and its clinical variants was established. Specific associations were observed for girls and boys, which indicates the existence of sexual dimorphism in the JIA pathogenesis.

scholarly journals Investigation of the role of major respiratory viruses in the aetiology of nasal polyps using polymerase chain reaction technique

2014 ◽  
Vol 128 (4) ◽  
pp. 356-359
Author(s):  
F Aksoy ◽  
A Yenigun ◽  
R Dogan ◽  
F Yilmaz ◽  
O Ozturan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Nasal Polyps ◽  
Nasal Polyposis ◽  
Respiratory Viruses ◽  
Polymerase Chain Reaction Technique ◽  
Control Group ◽  
Chain Reaction ◽  
Human Coronavirus ◽  
Polymerase Chain

AbstractObjective:We aimed to identify the role of major respiratory viruses in the aetiology of human nasal polyps using polymerase chain reaction technique.Methods:Thirty patients with nasal polyps and a group of 20 healthy patients (control group) were included in this study. Mucosa was obtained from the polyps of patients with nasal polyposis and from the middle turbinate of the control group patients by means of biopsy. The samples were stored at −80 °C until molecular analysis by polymerase chain reaction was carried out.Results:In the control group, the human coronavirus and human rhinovirus were diagnosed in one of the patients and the human respiratory syncytial virus in another. In the group with nasal polyposis, the influenza B virus was identified in one of the patients and the human coronavirus in another.Conclusion:The results did not demonstrate a statistically significant relationship between nasal polyposis and respiratory viruses.

scholarly journals The role of mutations in the genes FLG and GSTM1, and cytogenetic aberrations in the developmentof allergic occupational dermatitis in the oilfield workers of the north of Siberia

2011 ◽  
Vol 8 (4) ◽  
pp. 40-44
Author(s):  
Nikolay Nikolaevich Il'inskikh ◽  
B V Shilov ◽  
I N Il'inskikh ◽  
E N Il'inskikh ◽  
A M Subbotin ◽  
...  
Keyword(s):  
West Siberia ◽  
Control Group ◽  
Combined Effects ◽  
Buccal Epithelium ◽  
Occupational Dermatitis ◽  
Chain Reaction ◽  
The North ◽  
Cytogenetic Aberrations ◽  
Polymerase Chain

Background. The objective of the investigation was to determine frequencies of micronucleated cells in the buccal epithelium in relation to polymorphism of genes FLG and GSTM1 among oilfield workers suffered from allergic occupational dermatitis. Methods. There were 209 male oilfield workers examined with cases of allergic professional dermatitis at the age of 21-39 years old. as a control group there were used 207 male workers without allergic occupational dermatitis. we used genealogical method, micronucleous test and polymerase chain reaction to detect restriction fragments of genes GSTM1 and FLG. Results. it was detected that oilfield workers with genotypes contented homozygous mutated alleles GSTM1 (0/0) gene showed the higher frequency of micronucleated epithelial cells. it was not detected for FLG gene allele variants. among the examined oilfield workers with allergic occupational dermatitis there was nobody that would have both mutated alleles of FLG (282de14/282de14) and homozygous GSTM1 (0/0) genes, while in the control group we found some individuals of this type. Conclusions. The significantly higher levels of cytogenetic aberrations in the oilfield workers suffered from allergic occupational dermatitis are the result of combined effects of various factors on the genome. The investigation can provide the basis for the elaboration of new scientific criteria for hiring staff in oilfields of west siberia.

Analysis of the association of polymorphisms CASR and VDR with the development of nephrolithiasis in patients with primary hyperparathyroidism

2016 ◽  
Vol 61 (5) ◽  
pp. 4-8 ◽  
Author(s):  
Elena Viktorovna Peretokina ◽  
Ekaterina Aleksandrovna Pigarova ◽  
Natal'ya Georgievna Mokrysheva ◽  
Lyudmila Yakovlevna Rozhinskaya ◽  
Galina Viktorovna Baydakova ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphisms ◽  
Restriction Analysis ◽  
Phosphorus Metabolism ◽  
Chain Reaction ◽  
Calcium Phosphorus ◽  
Polymerase Chain ◽  
Relationship Of ◽  
The Relationship

Pathogenesis of nephrolithiasis (NL) at PHPT is not fully understood. Meanwhile, the detection of NL patients with PHPT is an absolute indication for parathyroidectomy. Conducted various studies aimed at finding a predictor of NL patients with PHPT. Actively study the role of genetic markers, particularly genes that regulate calcium-phosphorus metabolism.Objective — to assess the relationship of polymorphisms CASR and VDR with the development of the NL at PHPТ.Material and methods. A study to include 203 patients with confirmed PHPT, out of which 114 patients had the NL and 87 patients without NL. All patients were studied indicators calcium-phosphorus metabolism, the study of the level of PTH, vitamin D, the filtration function of the kidneys. All patients were studied indicators calcium-phosphorus metabolism, the level of PTH, vitamin D, the filtration function of the kidneys. The study of gene polymorphisms VDR (FokI, TaqI, BsmI, ApaI, Cdx2) was performed in 169 patients (113 with NL, 56 without NL) by polymerase chain reaction followed by restriction analysis; Study 3 polymorphisms CASR (A986S, R990G, Q1011E) was performed in 187 patients (110 with NL, 77 without NL), by direct sequencing.Results. No significant differences in the frequency of genotypes and alleles studied genes between the two groups has been received. According to logistic regression analysis, the only predictor of NL is the level of ionized calcium.Conclusions. The studied genes can not be used as predictors of the NL. May need to investigate other genes.

scholarly journals Helicobacter pylori Recombinant CagA Regulates Th1/Th2 Balance in a BALB/c Murine Model

2020 ◽  
Vol 10 (2) ◽  
pp. 264-270
Author(s):  
Nafiseh Paydarnia ◽  
Behzad Mansoori ◽  
Davoud Esmaeili ◽  
Tohid Kazemi ◽  
Mahyar Aghapour ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Chain Reaction ◽  
Protein Levels ◽  
Cytotoxin Associated Gene A ◽  
Polymerase Chain ◽  
H Pylori ◽  
Antibody Levels

Purpose: Helicobacter pylori is recognized as one of the prevalent causes of human gastricinfection. In the present study, the role of mixed immunization with H. pylori lipopolysaccharide(LPS) and recombinant cytotoxin-associated gene A (rCagA) as a stimulator of host immuneresponses was determined. Methods: BALB/c mice were immunized with different formulations by the systemic administrationat 14-day intervals. The effects of the formulations plus CpG adjuvants were assessed before andpost-immunization in separated studies. Moreover, the expression of Th1/Th2 cytokines wasquantified in sera of immunized mice using reverse transcription polymerase chain reaction (RTPCR)test and the protein levels confirmed with enzyme linked immunosorbent assay (ELISA).Finally, the specific antibody levels in sera were studied by ELISA and the tendency of cellularresponse was examined by IgG1/IgG2a ratio. Results: Data of Western blotting verified the presence of constructed protein. Analysisof lymphocyte proliferation showed that CpG-conjugated rCagA increases lymphocytesproliferation compared to the control group. Also, it was shown that formulations containing LPSand rCagA promote a Th1 response indicated by interferon-gamma expression and induced Th1/Th2 balance. Additionally, the specific IgG1, total IgG and IgG2a levels elevated in response toall treatments. Ultimately, the IgG2a/IgG1 ratio in the mice immunized with rCagA-containingformulations increased. Conclusion: These results indicated that rCagA protein carried with CpG adjuvant not onlymaintained its antigenicity throughout the experiment but also induced robust Th1-biasedimmune responses. Therefore, it holds promise for the production of an efficient vaccine againstH. pylori infection. <br />

scholarly journals The role of MMP-1 and FGFR4-R388 gene polymorphisms in pituitary adenoma

2018 ◽  
Vol 24 (4) ◽  
pp. 177-190 ◽  
Author(s):  
Eglė Zlatkutė ◽  
Rasa Liutkevičienė ◽  
Alvita Vilkevičiūtė ◽  
Brigita Glebauskienė ◽  
Loresa Kriaučiūnienė ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Tumour Growth ◽  
Genetic Factors ◽  
Reference Group ◽  
Control Group ◽  
Predominant Role ◽  
Chain Reaction ◽  
Pcr Method ◽  
Polymerase Chain

Background. The pathogenesis of pituitary adenoma (PA) is complex and poorly understood. It is thought that PA has a multifactorial aetiology; genetic factors also have an impact on PA development. Since MMP1 and FGFR4 genes play an important role in tumour growth, differentiation and progression, we decided to determine if the frequency of the genotypes of MMP-1 and FGFR4-R388 polymorphisms influence the development of PA. Materials and methods. The study enrolled n = 100 patients with PA and n = 200 healthy controls (reference group). The genotyping tests of MMP-1 and FGFR4-R388 were carried out using the real-time polymerase chain reaction (PCR) method. Results. The polymorphism in the MMP-1 gene 1G/1G genotype was more frequent in the group of invasive PA than in the control group: 28.6% vs. 16.5%, p = 0.044. The 1G/2G genotype was more frequent in females of the control group compared to PA group females: 50.3% vs. 30.8%, p = 0.011. The polymorphism in the MMP-1 gene 1G/1G genotype was more frequent in the active PA group than in the control group: 28.4% vs. 16.5%, p = 0.044. FGFR4-R388 did not play any predominant role in PA development. Conclusion. The MMP-1 gene 1G/1G may play a role in invasive and active PA development.

scholarly journals Decreased Expression of GPER1 Gene and Protein in Goiter

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Raquel Weber ◽  
Ana Paula Santin Bertoni ◽  
Laura Walter Bessestil ◽  
Ilma Simoni Brum ◽  
Tania Weber Furlanetto
Keyword(s):  
Estrogen Receptor ◽  
Quantitative Polymerase Chain Reaction ◽  
Thyroid Tissue ◽  
Chain Reaction ◽  
Normal Thyroid ◽  
Protein Levels ◽  
Protein Expressions ◽  
Polymerase Chain ◽  
G Protein Coupled

Goiter is more common in women, suggesting that estrogen could be involved in its physiopathology. The presence of classical estrogen receptors (ERαand ERβ) has been described in thyroid tissue, suggesting a direct effect of estrogen on the gland. A nonclassic estrogen receptor, the G-protein-coupled estrogen receptor (GPER1), has been described recently in several tissues. However, in goiter, the presence of this receptor has not been studied yet. We investigated GPER1 gene and protein expressions in normal thyroid and goiter using reverse transcription quantitative polymerase chain reaction (RT-qPCR) and Western blot, respectively. In normal thyroid (n=16) and goiter (n=19), GPER1 gene was expressed in all samples, while GPER1 protein was expressed in all samples of normal thyroid (n=15) but in only 72% of goiter samples (n=13). When comparing GPER1 gene and protein levels in both conditions, gene expression and protein levels were higher in normal thyroid than in goiter, suggesting a role of this receptor in this condition. Further studies are needed to elucidate the role of GPER1 in normal thyroid and goiter.

scholarly journals Macrophage migration inhibitory factor may play a protective role in osteoarthritis

2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Ming Liu ◽  
Zikun Xie ◽  
Guang Sun ◽  
Liujun Chen ◽  
Dake Qi ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Migration Inhibitory Factor ◽  
Macrophage Migration Inhibitory Factor ◽  
Protective Role ◽  
Macrophage Migration ◽  
Chain Reaction ◽  
Protein Levels ◽  
Tnf Α ◽  
Polymerase Chain

Abstract Background Osteoarthritis (OA) is the most prevalent form of arthritis and the major cause of disability and overall diminution of quality of life in the elderly population. Currently there is no cure for OA, partly due to the large gaps in our understanding of its underlying molecular and cellular mechanisms. Macrophage migration inhibitory factor (MIF) is a procytokine that mediates pleiotropic inflammatory effects in inflammatory diseases such as rheumatoid arthritis (RA) and ankylosing spondylitis (AS). However, data on the role of MIF in OA is limited with conflicting results. We undertook this study to investigate the role of MIF in OA by examining MIF genotype, mRNA expression, and protein levels in the Newfoundland Osteoarthritis Study. Methods One hundred nineteen end-stage knee/hip OA patients, 16 RA patients, and 113 healthy controls were included in the study. Two polymorphisms in the MIF gene, rs755622, and -794 CATT5-8, were genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) and PCR followed by automated capillary electrophoresis, respectively. MIF mRNA levels in articular cartilage and subchondral bone were measured by quantitative polymerase chain reaction. Plasma concentrations of MIF, tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interleukin-1 beta (IL-1β) were measured by enzyme-linked immunosorbent assay. Results rs755622 and -794 CATT5-8 genotypes were not associated with MIF mRNA or protein levels or OA (all p ≥ 0.19). MIF mRNA level in cartilage was lower in OA patients than in controls (p = 0.028) and RA patients (p = 0.004), while the levels in bone were comparable between OA patients and controls (p = 0.165). MIF protein level in plasma was lower in OA patients than in controls (p = 3.01 × 10−10), while the levels of TNF-α, IL-6 and IL-1β in plasma were all significantly higher in OA patients than in controls (all p ≤ 0.0007). Multivariable logistic regression showed lower MIF and higher IL-1β protein levels in plasma were independently associated with OA (OR per SD increase = 0.10 and 8.08; 95% CI = 0.04–0.19 and 4.42–16.82, respectively), but TNF-α and IL-6 became non-significant. Conclusions Reduced MIF mRNA and protein expression in OA patients suggested MIF might have a protective role in OA and could serve as a biomarker to differentiate OA from other joint disorders.

Sign in / Sign up

Export Citation Format

Share Document