scholarly journals Polymorphic variants of proteasomal genes PSMA3 and PSMA6 in children with articular syndrome and juvenile idiopathic arthritis

2021 ◽  
Vol 65 (4) ◽  
pp. 466-473
Author(s):  
I. Y. Bakutenko ◽  
I. D. Haurylchyk ◽  
E. V. Sechko ◽  
A. M. Tchitchko ◽  
A. V. Sukalo ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Inflammatory Diseases ◽  
Control Group ◽  
Single Nucleotide ◽  
Autoimmune Reaction ◽  
Autoimmune Rheumatic Disease ◽  
Clinical Control ◽  
Pcr Rflp ◽  
Proteasomal Genes ◽  
And Control

A comparative analysis of three single nucleotide variations of the proteasomal genes PSMA3 (rs2348071) and PSMA6 (rs2277460 and rs1048990) was carried out in the groups of children from 1 to 16 years old with the autoimmune rheumatic disease - juvenile idiopathic arthritis (JIA; n = 199), with articular syndrome of non-autoimmune etiology (n = 229) and in the clinical control group with neither autoimmune nor chronic inflammatory diseases (n = 379). PCR, PCR–RFLP and real-time PCR were used for genotyping. It was found that the CG genotype and G allele of rs10489990 polymorphism (OR = = 1.93; 95 % CI 1.29-2.90; p = 0.002 and OR = 1.51; 95 % CI 1.11-2.04; p = 0.008 respectively), as well as the AA genotype of rs2348071 polymorphism (OR = 1.89; 95 % CI 1.02–3.49; p = 0.044) are associated with the JIA susceptibility, but not with articular syndrome. The established JIA risk genotypes may indicate the involvement of PSMA3 and PSMA6 genes in the development of an autoimmune reaction. In combination with other risk DNA markers, they can be proposed to assess a genetic predisposition to JIA. It was also revealed that the frequencies of risk genotypes and alleles for JIA in the group of patients with articular syndrome as a whole occupy an intermediate position between JIA and control group frequencies. This may indicate an increased JIA risk in some patients with articular syndrome.

scholarly journals Investigation of TAGAP gene polymorphism (rs1738074) in Turkish pediatric celiac patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Disease Risk ◽  
Polymerase Chain Reaction Method ◽  
Control Group ◽  
Healthy Children ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Allele Specific ◽  
And Control

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.

scholarly journals What is the impact of methotrexate on liver in patients with juvenile idiopathic arthritis? Results of liver SWE performed in a single centre

2021 ◽  
Author(s):  
Vildan Güngörer ◽  
Mehmet Öztürk ◽  
Mustafa Yasir Özlü ◽  
Şükrü Arslan
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Shear Wave Elastography ◽  
Term Therapy ◽  
Control Group ◽  
Significant Difference ◽  
Group 2 ◽  
Long Term Therapy ◽  
And Control ◽  
The Impact

ABSTRACT Objectives Long-term therapy with low-dose methotrexate (MTX) is widely used in treatment of rheumatic diseases, in children. The purpose of this study was to evaluate liver elasticity in patients with juvenile idiopathic arthritis (JIA) who received MTX and compare the results with control group. Methods Liver elasticity was evaluated with shear wave elastography (SWE) technique in 25 patients aged 3–17 years who were followed up with JIA and received MTX and compared with 25 healthy controls of the same age and weight. Factors that had an effect on liver elasticity were examined. Results The mean SWE value of patients was 2.64 ± 2.13 m/s and 24.10 ± 18.50 kPa, whereas 1.83 ± 0.16 m/s and 10.09 ± 1.83 kPa in control group. There was a significant difference in liver elasticity in the patient and control groups. When the patients were evaluated as Group 1 (< 1000 mg) and Group 2 (≥ 1000 mg) according to the cumulative MTX dose, no significant difference was obtained. There was positive correlation between liver elasticity and weekly MTX dose and age. Conclusions Our study revealed that liver elasticity significantly decreased in patients who received MTX when compared with the control group. The elastography technique will be understood better over time and used safely in many areas.

The G allele in IL-10-1082 G/A may have a role in lowering the susceptibility to panic disorder in female patients

2016 ◽  
Vol 28 (6) ◽  
pp. 357-361 ◽  
Author(s):  
Han-Joon Kim ◽  
Yong-Ku Kim
Keyword(s):  
Panic Disorder ◽  
Patient Group ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Female Patients ◽  
Immune System Activation ◽  
Tnf Α ◽  
System Activation ◽  
And Control

BackgroundImmune system activation is involved in the pathophysiology of panic disorder (PD). We investigated INF-γ+874 A/T, TNF-α-308 G/A, and IL-10-1082 G/A single nucleotide polymorphisms (SNPs) to determine their association with PD.MethodThis study enroled 135 PD patients and 135 healthy controls. INF-γ+874 A/T (rs2430561), TNF-α-308 G/A (rs1800629), and IL-10-1082 G/A (rs1800896) were genotyped.ResultsThere were no differences in genotypes or allele frequencies between the patient and control groups, regardless of accompanying agoraphobia. However, for female patients, the G allele frequency in IL-10 SNP was higher in the control group than in the patient group. Additionally, the female control group had a higher frequency of the A/G and G/G genotype in the IL-10 SNP than the female patient group.ConclusionWe suggest that the G allele in IL-10-1082 G/A might have a role in reducing the manifestations of PD in female patients. Further studies are needed to extend and confirm our findings.

scholarly journals Association of rs780094 polymorphism of glucokinase regulatory protein with non-alcoholic fatty liver disease

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Masoud Shadmand ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban
Keyword(s):  
Regulatory Protein ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Northwest Of Iran ◽  
And Control ◽  
The Relationship ◽  
Tabriz City

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR–RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods. Results There was a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides (P < 0.05). Analysis by PCR–RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.

scholarly journals THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 12 (1) ◽  
pp. e2020004
Author(s):  
Enas A Dammag ◽  
Nahla A.M. Hamed ◽  
Nabil A El Halawani ◽  
Heba S Kassem ◽  
Mona W Ayad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Statistical Significance ◽  
Control Group ◽  
Spleen Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prognostic Criteria ◽  
And Control

Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.(1) The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. (2) Aim: To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria. Materials & Method: The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. Results: The mean age was 45.98±15.7 yrs in CML patients and   39.3±6.587 yrs in control group (p>0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p>0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p<0.05). Conclusions/Recommendation: TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.

scholarly journals Mitochondrial DNA 4977 bp Deletion in Chronic Cervicitis and Cervix Cancers

2012 ◽  
Vol 15 (1) ◽  
pp. 25-29 ◽  
Author(s):  
M Kara ◽  
A Tatar ◽  
B Borekci ◽  
F Dagli ◽  
S Oztas
Keyword(s):  
Mitochondrial Dna ◽  
Inflammatory Diseases ◽  
Turkish Population ◽  
Cervix Cancer ◽  
Control Group ◽  
Mtdna Mutations ◽  
Long Time ◽  
And Control ◽  
The Relationship ◽  
Chronic Cervicitis

Mitochondrial DNA 4977 bp Deletion in Chronic Cervicitis and Cervix CancersMitochondrial DNA (mtDNA) mutations have been implied in many diseases including cancer and inflammatory diseases. The aim of this study is to investigate the relationship between the 4977 bp deletion of the mtDNA and chronic cervicitis or cervix cancer in patients. The study included a group of patients with chronic cervicitis or cervix cancer, and a control group consisting of individuals without any cervical tissue disease. A total of 72 subjects in an East Turkish population were included in the study. Of these, 35 had chronic cervicitis, 21 had cervix cancer and 16 served as the control group. Isolation of mtDNA was performed from the tissues of these patients and then mtDNA deletions were studied using polymerase chain reaction (PCR). In the cancer groups, there were 9.5% heteroplasmic and homoplasmic deletions. There were no homoplasmic deletions in the cervicitis and control groups, but the frequencies of heteroplasmic deletions were 80.0 and 31.2%, respectively. Chronic inflammation leading to increased reactive oxygen species (ROS) may be the cause of the high mtDNA 4977 bp deletion frequencies in cancer and cervicitis. The older age of the cancer patient may suggest that ageing in addition to long time exposure to ROS may lead to deletions and subsequently cancer. This is the first study to investigate the relationship of the mtDNA 4977 bp deletion to chronic cervicitis and cervix cancer.

scholarly journals Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lin Sun ◽  
Jun Ma ◽  
Qian Mao ◽  
Yun-Long Yang ◽  
Lin-Lin Ma ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Single Nucleotide Polymorphisms ◽  
Calcium Channel ◽  
Diabetic Peripheral Neuropathy ◽  
Chinese Population ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp

The present study was conducted to explore the correlations between single nucleotide polymorphisms (SNPs) in the calcium channel CACNA 1A, CACNA 1C, and CACNA 1H genes and diabetic peripheral neuropathy (DPN) amongst the Chinese population. In total, 281 patients diagnosed with type 2 diabetes participated in the present study. These patients were divided into the case group, which was subdivided into the DPN (143 cases) and the non-DPN groups (138 cases). Subsequently, 180 healthy individuals that had undergone routine health examinations were also recruited and assigned to the control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies of CACNA 1A, CACNA 1C, and CACNA 1H genes; logistic regression analysis to investigate the association of gene polymorphisms with DNP. Gene–gene interactions were then detected by generalized multifactor dimensionality reduction (GMDR). The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN. It was also observed that the optimal models were three-, four- and five-dimensional models with a prediction accuracy of 61.05% and the greatest consistency of cross-validation was 10/10. In summary, these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on DPN.

scholarly journals Single Nucleotide Polymorphisms inP2X7Gene Are Associated with Serum Immunoglobulin G Responses toMycobacterium tuberculosisin Tuberculosis Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Jiangdong Wu ◽  
Lijun Lu ◽  
Le Zhang ◽  
Yulei Ding ◽  
Fang Wu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Immunoglobulin G ◽  
Serum Immunoglobulin ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutant Genotype ◽  
Pcr Rflp ◽  
Positive Rate

Objective. Our study investigated the association between single nucleotide polymorphisms (SNPs) in P2X7 gene and serum immunoglobulin G (IgG) responses to mycobacterium tuberculosis (MTB) in TB patients.Methods. A total of 103 TB patients were enrolled as case group and 87 healthy individuals at same geographical region as control group. The SNP detection of 1513A>C and -762T>C was performed using PCR-RFLP, and the levels of serum IgG responses to MTB in all subjects were determined.Results. AC and CC of 1513A>C and TC and CC of -762T>C had higher frequencies in case group than in control group. TB patients carrying TC and CC of -762T>C had higher positive rate of IgG responses to MTB than those carrying TT. Additionally, patients carrying TC and CC of -762T>C had more MTB in sputum than those carrying TT.Conclusion. P2X7 SNPs, 1513A>C and -762T>C, may be associated with the susceptibility to tuberculosis, and -762T>C SNP may contribute to the development of MTB. The mutant genotype of -762T>C (TC and CC) may lower human capability of phagocytosis to MTB, leading to an increased morbidity of TB.

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.

scholarly journals Superoxide Dismutase 2 Val16Ala Polymorphism is Associated with Amiodarone-Associated Liver Injury

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Branimir Radmanovic ◽  
Jovan Jovanovic ◽  
Natasa Djordjevic ◽  
Dejan Baskic ◽  
Jelena Cukic ◽  
...  
Keyword(s):  
Liver Injury ◽  
Control Group ◽  
Single Nucleotide ◽  
Clinical Center ◽  
Group A ◽  
Hardy Weinberg Equilibrium ◽  
Pcr Method ◽  
Group B ◽  
And Control ◽  
Superoxide Dismutase 2

AbstractAssociation of SOD2 V16A single-nucleotide polymorphism (rs4880) with drug hepatotoxicity were reported but relationships with amiodarone prescriptions remained unexplored. Research was an exploratory, controlled prospective clinical trial. Patients hospitalized and treated in Clinical Center in Kragujevac, Serbia (in year 2017) were divided into experimental (using amiodarone, having liver injury, n=29, 19 males, the mean age 66.8±10.4 years), control A (neither amiodarone use nor hepatotoxicity, n=29, 19, 66.1±10.3) and control B group (using amiodarone, not having hepatotoxicity, n=29, 19, 66.8±9.8). From blood samples, among other routine biochemistry, genotyping for SOD2 polymorphism Val16Ala was conducted using real-time PCR method with TaqMan® Genotyping Master Mix and TaqMan® DME Genotyping Assay for rs4880. Patients taking amiodarone and having liver injury were mostly carriers of Val/Val (TT) genotype (13 of 24 patients, 54.2%) while Val/Ala (TC) and Ala/Ala (CC) genotypes prevailed in control group A (19 of 40, 47.5%) and control group B (9 of 23, 39.1%), respectively (2=10.409, p=0.034). Frequency of Val (T) and Ala (C) alleles were 0.51 and 0.49, respectively in the whole study sample (Hardy Weinberg equilibrium, 2=0.56, p=0.454). Carriers of TT genotype had significantly higher ALT (437.0±1158.0 vs 81.9131.5 U/L), total bilirubin (28.320.5 vs 15.313.0 mol/L) and total bile acid concentrations (10.910.2 vs 6.45.3 mol/L) compared to carriers of TC genotype (U=2.331, p=0.020, U=3.204, p=0.001 and U=2.172, p=0.030, respectively). Higher incidence of 47T allele of SOD2 was inpatients with amiodarone-associated liver injury as compared to patients on amiodarone not experiencing hepatotoxic effects.

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