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 ◽  
...  

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.

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Brigita Glebauskiene ◽  
Rasa Liutkeviciene ◽  
Alvita Vilkeviciute ◽  
Loresa Kriauciuniene ◽  
Giedrimantas Bernotas ◽  
...  

Purpose. To determine if the frequency of the genotype ofMMP-2 (-1306 C/T) Rs243865has an influence on the development of pituitary adenoma (PA).Methods. The study enrolledn=84patients with PA and a random sample of the populationn=318(reference group). The genotyping test ofMMP-2 (-1306 C/T)was carried out using the real-time polymerase chain reaction method.Results. Analysis ofMMP-2 (-1306 C/T)gene polymorphism has not revealed any differences in the genotype (C/C, C/T,andT/T) distribution between the PA patients and the reference group (as follows: 50%, 44%, and 6% versus 59.75%, 33.96%, and 6.29%).MMP-2 (-1306) C/Cgenotype was rarely observed in noninvasive PA compared to healthy controls: 35.1% versus 59.75%;p=0.0049, as well C/C genotype being more frequently detected in nonrecurrence PA compared to healthy controls: 46.5% versus 59.75%;p=0.0468.MMP-2 (-1306) C/Tgenotype was more frequently present in PA females compared to healthy controls females: 49.1% versus 33.66%;p=0.041.Conclusion. Patients with noninvasive and nonrecurrence pituitary adenoma were the carriers of the C/C genotype significantly more frequently than their control counterparts and the C/T genotype in females was more frequent.


2021 ◽  
Vol 15 (2) ◽  
pp. 23-28
Author(s):  
M. Yu. Krylov ◽  
E. S. Fedorov ◽  
S. O. Salugina

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.


2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Rasa Liutkeviciene ◽  
Alvita Vilkeviciute ◽  
Greta Morkunaite ◽  
Brigita Glebauskiene ◽  
Loresa Kriauciuniene

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.


2014 ◽  
Vol 128 (4) ◽  
pp. 356-359
Author(s):  
F Aksoy ◽  
A Yenigun ◽  
R Dogan ◽  
F Yilmaz ◽  
O Ozturan ◽  
...  

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.


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 ◽  
...  

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.


Author(s):  
NICOLINE NICOLINE ◽  
FATIMAH BOENJAMIN PARTAKUSUMA ◽  
HEDIJANTI JOENOES ◽  
CHRISTOPHER TALBOT ◽  
ELZA IBRAHIM AUERKARI

Objective: Tooth decay or the caries process is a common dental problem that affects millions of people worldwide. Many risk factors are modifiable,while others are not (e.g., genetic factors). Polymorphism of the enamelin (ENAM) gene, which is required to ensure production of an essentialprotein for enamel development, may pose as a risk factor for the caries process. This study sought to investigate the possibility of ENAM C2452Tpolymorphism acting as a risk factor in the caries process.Methods: The polymerase chain reaction–restriction fragment length polymorphism method was employed to evaluate DNA samples taken from 95subjects with a high caries prevalence and 89 control subjects for ENAM C2452T polymorphism.Results: Based on Chi-squared tests, there were significant genotype and allele distribution differences between the group with a high cariesprevalence and the control group (p=0.005 and p=0.007). Polymorphism in this context may, therefore, serve as a risk factor for caries onset andprogression (OR: 3.62).Conclusion: ENAM C2452T polymorphism is related to the caries process and may constitute a risk factor.


2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Brigita Glebauskiene ◽  
Rasa Liutkeviciene ◽  
Alvita Vilkeviciute ◽  
Loresa Kriauciuniene ◽  
Silvija Jakstiene ◽  
...  

Purpose. To determine if the MMP-9 genotype has an influence on development of pituitary adenoma (PA). Methodology. The study enrolled n=86 patients with PA and n=526 healthy controls (reference group). The genotyping of MMP-9 was carried out using the real-time polymerase chain reaction method. Results. Our data demonstrated that the MMP-9 (–1562) C/C genotype was more frequent in PA group than in healthy controls (81.4% versus 64.6%, p=0.002); C/C genotype was more frequently present in PA females compared to healthy control females, 81.5% versus 64.6%, p=0.018, as well. MMP-9 (–1562) C/C genotype was frequently observed for all subgroups: noninvasive and invasive, nonrecurrence, and inactive PA compared to healthy controls: 81.8% versus 64.6%, p=0.021; 81.0% versus 64.6%, p=0.041; 81.8% versus 64.6%, p=0.005; 100.0% versus 64.6%, p<0.001, respectively. MMP-9 (–1562) C/C genotype was more frequent in inactive PA compared to active PA: 100.0% versus 71.4%; p<0.001. Conclusion. MMP-9 (–1562) C/C genotype plays a role in nonrecurrence, inactive, and invasive as well as in nonivasive PA development.


2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Elsa Saldaña-Rivera ◽  
Marissa Jaqueline Careaga-Castilla ◽  
Giovani Daniel Olvera-Cárdenas ◽  
Elvia Pérez-Soto ◽  
Virginia Sánchez-Monroy

Genetic factors, such as the mitochondrial DNA (mtDNA) T16189C polymorphism, have been associated with metabolic syndrome (MetS), but this association has not been studied in Mexico to date. The aim of the present study was to determine whether this polymorphism contributes to MetS in the Mexican population. We recruited 100 unrelated volunteer subjects who were divided into 2 groups: with MetS (MetS group) and without MetS (control group). All subjects were genotyped for the mtDNA T16189C polymorphism by polymerase chain reaction and sequencing. The mitochondrial T16189C polymorphism was detected in 24 (24%) of 100 subjects analyzed. The frequency of the mtDNA T16189C polymorphism was higher in the MetS group with 21 (32.3%) of 65 testing positive compared to 3 (8.5%) of 35 in the control group, indicating that this polymorphism is a probable risk factor for MetS in the Mexican population (odds ratio 5.0909, 95% CI 1.3977–18.5424, P=0.0136). Our results may contribute to early diagnosis of MetS, which is essential for establishing changes in early stages of the disease to avoid further complications and pathologies, thereby preventing the development of type 2 diabetes and cardiovascular disease in Mexico.


2020 ◽  
Vol 10 (2) ◽  
pp. 264-270
Author(s):  
Nafiseh Paydarnia ◽  
Behzad Mansoori ◽  
Davoud Esmaeili ◽  
Tohid Kazemi ◽  
Mahyar Aghapour ◽  
...  

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 />


2018 ◽  
Vol 7 (2) ◽  
pp. 35
Author(s):  
Sri Hidanah ◽  
Emy Koestanti Sabdoningrum ◽  
Retno Sri Wahyuni ◽  
Arini Rahmi Dewi ◽  
Erma - Safitri

ABSTRACT               Escherichia coli (E. coli) can be isolated from the environment both inside and outside the hospes body. There were 89 serotypes in which 21% showed resistance to various antibiotics, such as E. coli enterotoxin. Alternative efforts were needed as a substitute for antibiotics, one of them through the use of medicinal plants, such as meniran (Phyllanthus niruri Linn).  Meniran plant is an immunomodulator that serves to repair the immune system of the body. The research was done through several stages: isolation and identification of  E. coli enterotoxin from several broiler farms in East Java using the polymerase chain reaction (PCR) method, E. coli resistance test against some antibiotics, making meniran extract and activation test against E. coli enterotoxin The study was divided into five treatments: T0+ (group of chickens were infected by E. coli enterotoxin), T0- (control group, not infected), T1 (infected by E. coli enterotoksin + 20% meniran extract), T2 (infected by E. coli enterotoksin + 25% extract meniran), T3 (infected by E. coli enterotoxin + 30% extract meniran). Data were analyzed by ANOVA (Analysis of Variance). The results were showed that all of  E. coli DNA isolates which tested by the PCR method was showed positive reactions at 600 bp. In the next stage, that E. coli enterotoxin are resistance to some antibiotics, such as Amoxicillin, Amphicillin, Erythromycin, Cephalosporins, Tetracycline, Cloxacillin and Gentamicin. Furthermore, 30% Phyllanthus niruri linn extract  effective as an antibacterial for the prevention of antibiotic resistance from E. coli enterotoxin. 


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