scholarly journals Association of Klotho Gene Polymorphism with Cerebral Infarction

2021 ◽  
Author(s):  
Yu Li ◽  
Qiang Zhang ◽  
Haiping Bao ◽  
Chen Nie
Keyword(s):  
Gene Polymorphism ◽  
Cerebral Infarction ◽  
Peripheral Blood ◽  
Promoter Region ◽  
Gene Polymorphisms ◽  
Expression Level ◽  
Control Group ◽  
Weinberg Equilibrium ◽  
Klotho Gene ◽  
Hardy Weinberg Equilibrium

Background: We aimed to investigate the expression of Klotho gene in peripheral blood of patients with cerebral infarction (CI) and the association of its polymorphisms with the occurrence of CI. Methods: A total of 60 CI patients (CI group) and 20 healthy people receiving physical examination (control group) were enrolled as the research subjects. The expression of Klotho gene in CI group and control group was determined using enzyme-linked immunosorbent assay kit. Single nucleotide polymorphisms (rs192031, rs200131 and rs102312) in the promoter region of the Klotho gene were typed via conformational difference gel electrophoresis. Besides, whether the distribution frequencies of Klotho genotypes conformed to Hardy-Weinberg equilibrium was evaluated by chi-square test. Meanwhile, the associations of Klotho alleles and gene polymorphisms with CI occurrence were analyzed. Results: The protein expression level of Klotho in the peripheral blood was remarkably lower in patients in CI group than that in control group (P<0.05). Hardy-Weinberg equilibrium analysis revealed that Klotho gene polymorphisms (rs192031, rs200131 and rs102312) conformed to the genetic equilibrium distribution (P>0.05). Gene-based association analysis manifested that only rs192031 polymorphism and alleles were correlated with CI occurrence (P<0.05). Systolic blood pressure and high-density lipoprotein cholesterol were notably higher in CI patients with TT genotype of Klotho gene polymorphism rs192031 than those in control group (P<0.05). Furthermore, there were no associations of rs200131 and rs102312 polymorphisms and alleles with the occurrence of CI (P>0.05). Conclusions: The expression level of Klotho is evidently reduced in the peripheral blood of CI patients. Rs192031 in the promoter region of the Klotho gene is associated with the occurrence of CI, while rs200131 and rs102312 have no relations with CI.

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

2020 ◽  
Vol 21 ◽  
Author(s):  
Elli Anagnostou ◽  
Alexia Kafkoutsou ◽  
Despina Mavrogianni ◽  
Ekaterini Domali ◽  
Evangelia Dimitroulia ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Ovarian Response ◽  
Greek Population ◽  
Control Group ◽  
Genotype Distribution ◽  
Β Subunit ◽  
Molecular Genetic Study ◽  
The Impact ◽  
First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

scholarly journals Detection of IL-37 in peripheral blood of patients with rheumatoid arthritis and its clinical significance

2019 ◽  
Vol 17 ◽  
pp. 205873921882022
Author(s):  
Ge Zhang ◽  
Wei Huang ◽  
Ying Wang
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Significance ◽  
Peripheral Blood ◽  
Mononuclear Cells ◽  
Expression Level ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Active Period ◽  
Stable Period ◽  
Antibody Levels

The study aimed to detect the expression level of interleukin-37 (IL-37) in patients with rheumatoid arthritis (RA) and explore its clinical significance. A total of 40 peripheral blood samples from active and stable RA patients were collected (40 patients with RA), and peripheral blood from 40 healthy volunteers was used as the control group. Peripheral blood serum and peripheral blood mononuclear cells (PBMCs) were isolated. The expression of IL-37 mRNA in PBMCs was detected by real-time fluorescence quantitative PCR. Serum levels of IL-37, rheumatoid factor (RF), and anticyclic citrullinated peptide antibody (CCP) were measured by enzyme-linked immunosorbent assay (ELISA). The results were then calculated and analyzed. The results showed that expression of IL-37 mRNA in the PBMCs of patients with RA was significantly higher than that in the control group ( P < 0.05). Expression of IL-37 mRNA in the PBMCs of the active period group was significantly higher than that in the stable period group ( P < 0.05). IL-37 levels in patients with RA were significantly higher than those of the control group ( P < 0.05). IL-37 levels in the active period group were also significantly higher than those of the stable period group ( P < 0.05). The comparative analysis of RF and anti-CCP antibody levels showed that IL-37 was positively correlated with RF and anti-CCP levels in patients with RA. In conclusion, the expression level of IL-37 in peripheral blood of RA patients was significantly higher than that of normal control group, and it was correlated with RF and CCP antibody levels, indicating that IL-37 plays an important role in the development of RA.

scholarly journals Relationship between CYP2E1 Gene Polymorphism and Anti-tuberculosis Drug-induced Liver Injury

2018 ◽  
Vol 1 (4) ◽  
pp. 105
Author(s):  
Donglin Zhu ◽  
Yun Xi ◽  
Jieming Dong ◽  
Fanhua Huang ◽  
Changzhi Xu ◽  
...  
Keyword(s):  
Liver Injury ◽  
Gene Polymorphism ◽  
Liver Damage ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Drug Induced ◽  
Drug Induced Liver Injury ◽  
Cyp2e1 Gene

 Objective: To investigate the relationship between cytochrome P450 E1 (CYP2E1) gene polymorphisms and susceptibility to anti-tuberculosis drug-induced liver damage (ATDLI) in tuberculosis patients in the Chinese Han nationality. Methods: A retrospective analysis was performed on 360 patients with tuberculosis who had liver damage after tuberculosis treatment (case group) and 360 patients with tuberculosis who did not develop liver injury after treatment (control group). MassARRAY were used to detect CYP2E1 gene polymorphisms. Results: In a total of 8 tagged SNP loci selected, the rs8192773 locus failed to pass the test, and therefore, it is not included in subsequent analysis. At the remaining seven SNP sites, the difference in alleles was not statistically significant between the case group and the control group, suggesting that these sites may not be related to liver damage caused by anti-tuberculosis drugs. Three monomer domains were found in the seven tags SNP loci mentioned above. However, it was found that these haplotypes are not closely related to anti-tuberculosis drug-induced liver damage. Conclusion: The CYP2E1 gene polymorphism in the Chinese Han nationality is not related to the occurrence of anti-tuberculosis drug-induced liver injury.

scholarly journals Relationship between Superoxide Dismutase Manganese Gene Polymorphism and Eye Tumors

2021 ◽  
Vol 9 (A) ◽  
pp. 229-232
Author(s):  
Rodiah Rahmawaty Lubis ◽  
Cut Adeya Adella ◽  
Lokot Donna Lubis
Keyword(s):  
Superoxide Dismutase ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Cancer Biology ◽  
Orbital Tumor ◽  
Control Group ◽  
Orbital Tumors ◽  
The Impact ◽  
The Relationship ◽  
Mnsod Gene

ABSTRACT   Background: Orbital tumor in Indonesia is one of the eye health problems that can cause blindness. The impact caused by orbital tumors on patients is quite large because it can result in blindness and even death due to its metastatic nature. The role that SOD plays in cancer biology is not well understood, most studies showing a more oxidative state, characterized by increased intracellular ROS, particularly superoxide. Objective: To determine the relationship between Manganese Superoxide Dismutase (SOD2) gene polymorphisms and the incidence of orbital tumors in Medan. Methods: This study is an analytic observational study with a cross-sectional data collection method using controls. Comparisons were made between the control group and the observed group to see the relationship between SOD2 polymorphisms and the risk of orbital tumor incidence in Medan. The ophthalmic examination, anterior and posterior segments, and assessment of CT orbit if deemed necessary for the orbital tumor patients. Histopathological examination was done by the Pathologist. Blood samples was taken for polymorphism examination on extracted DNA using the Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) methods. Results: About 30 patients that met the inclusion criterias. Laterality, the left eye is more likely to suffer from tumors when compared to the right eye. This study found as many as 16 patients, while malignant tumors was 14 patients. There was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors (p <0.001), there was a relationship between the MnSOD gene polymorphism and the incidence of orbital tumors in the female sex (p <0.001) Conclusion: There was a relationship between MnSOD gene polymorphisms and the incidence of orbital tumors (p <0.001)

scholarly journals MBL2 gene polymorphisms are not related to the occurrence of cerebrovascular disease in sickle cell anemia

2020 ◽  
Vol 9 (7) ◽  
pp. e439974240
Author(s):  
Isabela Cristina Cordeiro Farias ◽  
Taciana Furtado Mendonça-Belmont ◽  
Patrícia Muniz Mendes Freire Moura ◽  
Igor Farias Domingos ◽  
Diego Arruda Falcão ◽  
...  
Keyword(s):  
Cerebrovascular Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Promoter Region ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Mbl2 Gene ◽  
Number Of Patients ◽  
Exon 1 ◽  
The Impact

Objective: This study has as objective to verify whether MBL2 gene polymorphisms are related to the occurrence of cerebrovascular disease (CD) in sickle cell anemia (SCA) patients. Methods: Overall, 259 unrelated SCA patients were enrolled. The patients were divided into three groups: control group, stroke group ad range of risk group. Peripheral blood samples were collected and DNA extraction was performed. All patients were genotyped for exon 1, promoter region -221 and promoter region -550 of MBL2 gene, along with β-globin gene haplotypes. Results: Concerning the genotyping of the MBL2, there was no difference in the frequency of allelic and genotypic variants of the exon 1 and the promoter regions -221 and -550 of the MBL2 gene among the studied groups. Conclusion: Despite the small number of patients, and the lack of association between MBL2 polymorphisms and CD, our study represents an effort to understand the impact of MBL2 polymorphisms in the clinical outcome of patients with SCA.

scholarly journals CYP3A4*1G gene Polymorphism on Javanese People

2015 ◽  
Vol 16 (2) ◽  
pp. 83
Author(s):  
Em Sutrisna ◽  
Iwan Dwiprahasto ◽  
Erna Kristin
Keyword(s):  
Cytochrome P450 ◽  
Catalytic Activity ◽  
Gene Polymorphism ◽  
Japanese Population ◽  
Genotype Frequency ◽  
Cytochrome P450 3A4 ◽  
Weinberg Equilibrium ◽  
Hardy Weinberg Equilibrium ◽  
Cyp3a4 Gene ◽  
Cytochrome P 450

Most of drugs are metabolized by cytochrome P 450 (CYP) enzyme. Cytochrome P450 3A4 is thecytochrome that is involved in metabolizing more than 60% of all medicine used in human. The variationof this CYP3A4 gene will affect the catalytic activity of this enzyme. Recently, CYP3A4*1G in intron 10 wasfound in Chinese and Japanese population. There is a substitution of G to A at position 82266 in intron 10. Thepurpose of this research was to investigate the frequency of allele and genotype CYP3A4*1G. Samples weretaken from bloods of the subjects of the research. The examination of CYP3A4*1G was conducted by RTLP-PCRmethod.As the results of this research, the frequency of CYP3A4*1G in Javanese people is CYP3A4*1/*1 0.25,CYP3A4*1/*1G 0.55 and CYP3A4*1G/*1G 0.20. Frequency of allele G: 0.53, allele A: 0.47. The Fisher’s exact- testshows that the allele and genotype frequencyis p. 1.000. The allele and genotype frequency of Javanese peopleisstill in Hardy-Weinberg equilibrium.

scholarly journals High Level of Mir-142-3P Expression in Peripheral Blood of Patients with Ovarian Carcinoma

2021 ◽  
Author(s):  
Yasemin Gider ◽  
Xhariga Jabbarli ◽  
Gamze Uyaroglu ◽  
Seref Bugra Tuncer ◽  
Demet Akdeniz Odemis ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Late Stage ◽  
Peripheral Blood ◽  
Poor Prognosis ◽  
Expression Level ◽  
Healthy Control Group ◽  
Control Group ◽  
Healthy Controls ◽  
Healthy Control

Abstract Background The most common cancers detected in women are breast, thyroid, colorectal, uterine corpus, lung, and ovarian cancer. Ovarian cancer is responsible from more than 150.000 death annually worldwide. This cancer is detected in the late stage, and is characterised with poor prognosis, therefore most cases result with death. The fact that this cancer manifests itself in the late stage and is characterized by a poor prognosis, is caused death in the majority of cases. Therefore, the diagnosis and the treatment of the disease have to be improved for a better quality of life for patients. MicroRNAs are the noncoding RNAs in the length of 19–24 nucleotides which show suppressor effect on target genes. miRNAs are included in the pathology of various diseases including cancer. miRNAs being as the biomarker candidates in diagnosis, and their use in treatment as the inhibitors of the molecules mimicking the miRNA showed that they may be used as the new therapeutic target and agents. Methods We detected with our group in our prior study conducted with disconcordant ovarian cancer twins that many miRNA molecules were different in ovarian cancer compared with the molecules in healthy sibling. The expression level of miR-142-3p that was selected from the miRNAs detected in the previous study was compared, and investigated in a wider ovarian cancer group, and in healthy control group. miR-142-3p expression level was investigated using the real-time PCR method in the present study involving 147 patients, and 100 healthy control group. The differences in the expression levels of miR-142-3p detected in the peripheral blood lymphocytes of ovarian cancer patients, and healthy control were statisticaly evaluated. Results The expression level of miR-142-3p was detected to have increased 3.11 fold in ovarian cancer patients compared with the levels in healthy controls, and the difference was statistically significant (p:0.00). These results suggest that miR-142-3p that was found significantly increased in the peripheral blood samples of ovarian cancer patients compared with the healthy controls might be used as a sensitive, noninvasive biomarker in the early diagnosis, and treatment and follow up of ovarian cancer.

Correlation of Vitamin D3 with the Expression of RORγt and Foxp3 mRNAs in the Peripheral Blood of Myasthenia Gravis Patients

2020 ◽  
pp. 1-7
Author(s):  
Pan Huang ◽  
Xiao-ying He ◽  
Min Xu
Keyword(s):  
Myasthenia Gravis ◽  
Peripheral Blood ◽  
Normal Subjects ◽  
Orphan Receptor ◽  
Expression Level ◽  
Control Group ◽  
Foxp3 Mrna ◽  
Expression Levels ◽  
Relative Expression ◽  
The Relationship

<b><i>Objectives:</i></b> to investigate the expression levels of 1,25(OH)<sub>2</sub>D<sub>3</sub> in the peripheral blood from patients with myasthenia gravis (MG) and to correlate levels with retinoid-related orphan receptor γt (RORγt) and forkhead or winged-helix transcription factor 3 (Foxp3) mRNA expression. <b><i>Methods:</i></b> Sixty-seven patients with MG were enrolled in the experimental group, and 50 normal subjects were selected as the control group. The expression levels of 1,25(OH)<sub>2</sub>D<sub>3</sub> and RORγt and Foxp3 mRNAs were measured in the serum of the 2 patient groups and the relationship between factors were correlated with the severity score of MG. The relationship between the levels of 1,25(OH)<sub>2</sub>D<sub>3</sub> and the relative expressions of RORγt and Foxp3 mRNAs was determined. <b><i>Results:</i></b> There were no differences between groups regarding patient’s baseline data. 1,25(OH)<sub>2</sub>D<sub>3</sub> and RORγt and Foxp3 mRNAs are differentially expressed in the MG group and the control group (<i>p</i> &#x3c; 0.05). QMG score is negatively correlated with the expression level of peripheral blood 1,25(OH)<sub>2</sub>D<sub>3</sub> and Foxp3 mRNA (<i>r</i> = −0.797, −0.543; <i>p</i> &#x3c; 0.01) and positively correlated with the relative expression level of RORγt mRNA (<i>r</i> = 0.539; <i>p</i> &#x3c; 0.01). 1,25(OH)<sub>2</sub>D<sub>3</sub> expression level was negatively correlated with the relative expression of RORγt mRNA (<i>r</i> = −0.559; <i>p</i> &#x3c; 0.01) and positively correlated with the relative expression of Foxp3 mRNA (<i>r</i> = 0.390; <i>p</i> &#x3c; 0.01). <b><i>Conclusions:</i></b> The levels of 1,25(OH)<sub>2</sub>D<sub>3</sub> were shown to be lower in patients with MG compared to normal controls. The observed low levels of 1,25(OH)<sub>2</sub>D<sub>3</sub> may lead to changes in the expression of RORγt and Foxp3 mRNAs involved in MG.

Prognostic Significance of IL-17,And IL-13 Along With IL-23R Gene Polymorphisms in Patients with Rheumatoid Arthritis in Iraqi Patients

2018 ◽  
Vol 9 (SPL1) ◽  
Author(s):  
Ibrahim A Altamemi ◽  
Sally Alkhafaji
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Polymorphism ◽  
Disease Activity ◽  
Prognostic Value ◽  
Systemic Disease ◽  
Expression Level ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Das 28 ◽  
Control Serum

Rheumatoid arthritis is a systemic disease with very complex pathogenesis and feature of chronic synovitis. The biological effect of polymorphism on expression and functionality of IL-23R such as SNP can have functional and phenotypic consequences that make Il-23R as a risk factor for RA disease. Moreover recently there is a new trends to find out a new noninvasive prognostic biomarker for RA disease which may help in fallowing up disease. Thus the aim of present work is to find out if there prognostic value for IL-13 and IL-17in Rheumatoid arthritis through linking its expression level with disease activity score (DAS). Also To study if there is a role for IL-23R 11209026 gene polymorphism in disease susceptibility in Iraqi community by using healthy volunteer as a control group. To achieve this goal a Case control study has been conducted on 40 patient and 40 matched apparently health control. serum IL-17 and IL-13 concentration were measure by enzyme Linked immunosorbent assay According to manufactural instruction,measurement of disease activity was determine according to DAS 28 Score.RFLP PCR was used to study SNP of IL-23R gene polymorphism for patient and control group. Data were summarized, presented and analyzed using statistical package for social science (SPSS version 23). Result of present study found there was significant association between serum IL-17 and IL-13 level and RA disease (P<0, 001; and P<0, 001respectively). Moreover,there is significant positive correlation between expression level of both IL-17 and IL-13 with DAS28 (0.044,and 0.034 respectively). According to Receptor operating Curve both of IL-17 and IL-13 found to have high specificity and sensitivity 100%. Regarding to IL-23 R gene polymorphism,there was no significant correlation between rs11209026 gene polymorphism and susceptibility to rheumatoid arthritis patients in Iraqi community. Thus,present study showed that the concentrations of IL-13 and IL-17 significantly correlated with disease severity and DAS 28 which reflect their prognostic value in RA. Moreover,present study demonstrated that there was no significant association between Il-23R gene rs11209026 polymorphism and susceptibility to RA in Iraqi population.

Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population

2015 ◽  
Vol 87 (3) ◽  
Author(s):  
Jacek Kabziński ◽  
Ireneusz Majsterek ◽  
Michał Mik ◽  
Adam Dziki ◽  
Łukasz Dziki ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Healthy Subjects ◽  
Genetic Basis ◽  
Direct Relationship ◽  
Control Group ◽  
Polish Population ◽  
Increased Risk

AbstractColorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems.The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population.Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method.Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008).Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.

Sign in / Sign up

Export Citation Format

Share Document