scholarly journals Association of promoter region polymorhism of the tnfб gene with the development of atopic bronchial asthma

2005 ◽  
Vol 3 (3) ◽  
pp. 33-37
Author(s):  
Julia V Ostankova ◽  
Tatyana E Ivashchenko ◽  
Ludmila A Zhelenina ◽  
Vladislav S Baranov
Keyword(s):  
Bronchial Asthma ◽  
Rflp Analysis ◽  
Population Group ◽  
Asthmatic Patients ◽  
Atopic Bronchial Asthma ◽  
Reversible Airway Obstruction ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Tnfa Gene

Atopic bronchial asthma (ABA) is a complex genetic disease characterized by increased airway responsiveness to a variety of stimuli, reversible airway obstruction, and airway inflammation. The genetic polymorphisms -238 A/G and -308 A/G of the TNFA gene were studied by PCR-RFLP analysis in the group of asthmatic patients with age of manifestation before 18 years (83) and the population group (117). According to obtained data the frequency of -238A allele of the TNFA gene was significantly lower in the group of patients with ABA (1,2%) as compared to the population group (5,6%). The analysis of distribution of the G -308A polymorphism of the TNFA gene revealed significant increase of the frequency of -308A allele in the patients with ABA (9,0%) as compared to the population (4,0%). According to odds ratio the careers of -308A allele of the TNFA gene have 2-fold increased risk of the development of ABA (OR = 2,48; CI: 1,06-5,82). The frequency of -308A allele of the TNFA gene in the group of patients was significantly higher in women (14,8 %) as compared to men (2,6 %, p = 0,0064, df = 1). After comparing the distribution of genotypes of -238 and -308 polymorphisms of the TNFA gene together significant difference between patients with ABA and population was observed. Combined genotype -238A/G + -308G/G of the TNFA gene associated with the lowest level of gene expression resulted in considerable decrease of ABA risk (OR = 0,097). Different hypotheses of the role of polymorphic variants of the TNFA gene in pathogenesis of ABA were discussed.

UCP2 and CFH Gene Variants with Genetic Susceptibility to Schizophrenia in Turkish Population

2020 ◽  
Vol 20 ◽  
Author(s):  
Ayse Feyda Nursal ◽  
Pinar Cetinay Aydin ◽  
Mustafa Pehlivan ◽  
Ulgen Sever ◽  
Sacide Pehlivan
Keyword(s):  
Uncoupling Protein ◽  
Rflp Analysis ◽  
Turkish Population ◽  
Factor H ◽  
Gene Variants ◽  
Complement Factor ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
First Results

Objective: Schizophrenia (Sch) is a complex, multifactorial psychiatric disorder. Growing evidence shows that oxidative damage and immunological dysfunction exist in the Sch physiopathology. In the present study, we aimed to evaluate whether the Uncoupling protein 2 and Complement factor H gene variants play any role in susceptibility to Sch. Methods: This study was carried out on 200 individuals (100 Sch patients and 100 healthy controls). Genomic DNA was extracted from blood samples.UCP2-866G /A (rs659366) and CFHY402H variants were analyzed by PCR-RFLP analysis. Results: The UCP2 -866G/A variant G/G genotype and G allele were associated significantly with increased risk of Sch (p=0.001, p=0.001, respectively). The subjects carrying UCP2 -866G/A variant G/G genotype had 4.377-fold increased risk for Sch.There was no significant difference between the groups for the genotype and allele frequencies of CFH Y402H variant (p>0.05). The observed genotype counts deviated significantly from those expected in Sch patients according to the HWE for UCP2 -866G/A variant (p=0.001). Conclusion: We present the first results investigating UCP2 -866G/A/ and CFH Y402H variants for susceptibility to Sch in a Turkish population. These results indicate that the UCP2 -866G/A, but not CFH Y402H variant, might play an important role in the development of Sch.

Polymorphisms in alcohol metabolizing genes ADH2 and ADH3 and susceptibility to pancreatitis in alcoholics

2017 ◽  
Vol 6 (03) ◽  
pp. 5297
Author(s):  
Vedangi Aaren* ◽  
Godi Sudhakar ◽  
Girinadh L.R.S.
Keyword(s):  
Frequency Distribution ◽  
Ethanol Metabolism ◽  
Alcoholic Pancreatitis ◽  
Cytochrome P450 Enzyme ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
P450 Enzyme ◽  
Acute Alcoholic Pancreatitis ◽  
Acute And Chronic Pancreatitis

In both developed and developing countries, overuse of alcohol is a considered as the major cause of acute and chronic pancreatitis. Prolonged overconsumption of alcohol for 5–10 years typically precedes the initial attack of acute alcoholic pancreatitis. It is observed that only a minority (around 5%) of alcoholics develop pancreatitis. It is now established that the pancreas has the capacity to metabolize ethanol. Previous studies have shown that there are two major pathways of ethanol metabolism, oxidative and non-oxidative. Oxidative ethanol metabolism involves the conversion of ethanol to acetaldehyde, a reaction that is catalysed by aldehyde dehydrogenase (ADH) with contributions from cytochrome P450 enzyme (CYP2E1) and possibly also catalase. Genetic factors regulating alcohol metabolism could predispose in developing alcoholic pancreatitis (AP). We investigated the association of polymorphisms in ADH enzymes with the alcoholic pancreatitis in North coastal Andhra Pradesh. Patients with alcoholic pancreatitis (AP; n = 100), alcoholic controls (AC; n = 100), and healthy controls (HC; n = 100) were included in the study. Blood samples were collected from the subjects in EDTA coated vials. DNA was extracted and genotyping for ADH2 and ADH3 was done by PCR-RFLP (polymerase chain reaction restriction fragment length polymorphism). The products were analysed by gel electrophoresis. The frequency distribution of ADH3*1/*1 genotype was significantly higher in AP group (54%) compared with AC (35%), and HC (42%), and was found to be associated with increased risk of alcoholic pancreatitis. There was no statistically significant difference between the frequency distribution of ADH3*1/*1, ADH3*1/*2, and ADH3*2/*2 genotypes between AC and HC. There was no statistically significant difference between the frequency distribution of ADH2*1/*1, ADH2*1/*2, and ADH2*2/*2 genotypes in AP compared with AC and HC. This study shows that carriers of ADH3*1/*1 individuals consuming alcohol are at higher risk for alcoholic pancreatitis than those with other genotypes such as ADH3*1/*2 and ADH3*2/*2. 

The Utility of Serum IL-1β and CRP Together with Fractional Exhaled Nitric Oxide in the Diagnosis of Asthma in Adults

2021 ◽  
Vol 19 (8) ◽  
pp. 119-124
Author(s):  
Hayder Abdul-Amir Makki Al-Hindy ◽  
Ali Jihad Hemid Al-Athari ◽  
Mazin J. Mousa ◽  
Safa Jihad Hameed ◽  
Suhad Hafidh Obeed
Keyword(s):  
Nitric Oxide ◽  
Sensitivity And Specificity ◽  
Bronchial Asthma ◽  
High Sensitivity ◽  
Exhaled Nitric Oxide ◽  
Fractional Exhaled Nitric Oxide ◽  
Asthmatic Patients ◽  
Significant Difference ◽  
Asthma Patients ◽  
Hs Crp

Background: Bronchial asthma (BrA), recognized lately as an umbrella, covers various subtypes rather than only one disease. Asthma is a chronic inflammation of the airways, in which cytokines could play a crucial role in its pathogenesis. Hence, labors to progress noninvasive markers for asthma had centered through this era. Presently, the fractional exhaled nitric oxide (FeNO), serum C-reactive protein (CRP), and interleukin levels are emerging analytical biomarkers in this field. FeNO is a noninvasive and practical tool even in mild asthma. This study aimed to evaluate the utility of serum IL-1β and CRP together with fractional exhaled nitric oxide in the diagnosis of adult bronchial asthma. Method: The study was a case control, including 150-patients and 100-healthy controls. FeNO tests, measurements of plasma levels IL-1β and HS-CRP had undertaken for all the participants. The statistical data had examined by SPSS (V/27) for Windows. Descriptive data of the variables had compatibly used. A significance lower than or identical to 0.05 had intended. ROC curve examination of FeNO tests, IL-1β, and HS-CRP, to predict asthma from healthy control had applied. Results: there was a significant difference in the FeNo test, HS-CRP levels, and BMI, while no significant difference in all other variables between the groups. The FeNo results correlate positively, though not significantly, with the levels of IL-1β in asthmatic patients (> 0.05). There was a nonsignificant negative correlation between the FeNo results with the level of HSCRP. The accuracy, sensitivity, and specificity of the IL-1β to distinguish asthma were 68.6% and 58% at 95% CI [0.41-0.745], respectively, which was not significant (p>0.05). However, ROC analysis of HS-CRP revealed predictability for asthma patients (p-0.000), with higher accuracy, sensitivity, and specificity: 89.9%, and 68.1% at 95% CI [0.820-0.979], respectively. The FeNo tests revealed highly significant (0.000), high sensitivity, and specific (91% for both) with high 95% CI [0.938-1.000] predictability for asthma. Conclusion: The utility of circulating HS-CRP is more valuable than IL-1β when combined with fractional exhaled nitric oxide in the diagnosis of asthma. Novel biomarkers could improve the precision of this field.

scholarly journals THE PREVALENCE OF PAI-1 4G/5G POLYMORPHISM IN WOMEN WITH FETAL LOSS – FIRST DATA FOR A SERBIAN POPULATION / UČESTALOST POLIMORFIZMA PAI-1 4G/5G KOD ŽENA SA SPONTANIM POBAČAJEM - PRVI PODACI ZA SRPSKU POPULACIJU

2013 ◽  
Vol 33 (2) ◽  
pp. 203-207 ◽  
Author(s):  
Valentina Đorđević ◽  
Maja Gvozdenov ◽  
Iva Pruner ◽  
Mirjana Kovač ◽  
Branko Tomić ◽  
...  
Keyword(s):  
Fetal Loss ◽  
Rflp Analysis ◽  
Plasminogen Activator Inhibitor ◽  
Second Trimester ◽  
Plasminogen Activator Inhibitor 1 ◽  
Over Expression ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Pai 1

Summary Background: Plasminogen activator inhibitor 1 (PAI-1) is an inhibitor of fibrinolysis. The PAI-1 4G/5G polymorphism is associated with elevated plasma levels of PAI-1. Over- expression of PAI-1 and impaired fibrinolysis in homozygous carriers of the 4G/4G PAI polymorphism may lead to abnor- mal placental formation and increased risk of fetal loss (FL). The aim of our study was to determine the frequency of this polymorphism in patients with FL in a Serbian population. Methods: The study was carried out in a group of 203 women (91 controls and 112 women with FL). The presence of PAI-1 4G/5G polymorphism was detected by PCR-RFLP analysis. Results: Slightly increased frequency of the PAI-1 4G/4G genotype was observed in the study group compared to the controls (32.1% vs. 30.8%). The frequency of PAI-1 was highest in women experiencing FL in the second trimester of pregnancy (50%), but this difference was not statistically sig- nificant. Conclusions: Our findings suggest that PAI-1 4G/4G might be a risk factor for FL occurring in the second trimester of pregnancy. Further studies are required in order to determine the role of PAI-1 4G/5G polymorphism in the etiology of FL.

scholarly journals Schoolbodys in urban industrial environments: are they at increased risk of bronchial asthma?

1999 ◽  
Vol 5 (4) ◽  
pp. 657-663
Author(s):  
A. Al Shairi ◽  
K. Al Dawood
Keyword(s):  
Bronchial Asthma ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Industrial City ◽  
Increased Risk ◽  
Significant Difference ◽  
Industrial Environments

The objective of this cross-sectional study was to compare the prevalence of bronchial asthma among Saudi schoolboys in Yanbu Industrial City and in two non-industrial villages. In 1993, questionnaires were distributed to 375 schoolboys for completion by their parents. The prevalence of questionnaire-diagnosed asthma in Yanbu Industrial City, and in the villages of Al-Furash and Al-Gafure, was 12.6%, 4.3% and 16% respectively. The prevalence of physician-diagnosed asthma in the three areas was 13.9%, 2.2% and 13.7% respectively. There was no significant difference between the two methods of diagnosis

scholarly journals THE EFFECT OF MAGNETO-LASER THERAPY ON THE PHENOTYPE OF BASOPHILS IN CHILDREN WITH ATOPIC ASTHMA

2019 ◽  
Vol 29 (2) ◽  
pp. 35-38
Author(s):  
Elena Asiryn ◽  
Pavel Novikov ◽  
Volha Matsiushchanka ◽  
Nadiezhda Titova ◽  
Lukas Vaidelys ◽  
...  
Keyword(s):  
Laser Therapy ◽  
Bronchial Asthma ◽  
Inhaled Corticosteroids ◽  
Atopic Asthma ◽  
Relative Level ◽  
Atopic Bronchial Asthma ◽  
Significant Difference ◽  
Group A ◽  
The Absolute ◽  
Group B

In recent years there has been growing evidence to suggest a major role of basophils alongside eosinophils and mast cells in allergic inflammation. The aim of this study was to analyze the dynamics of the basophil phenotypes after the use of magneto-la-ser therapy in children with atopic bronchial asthma. Materials and methods. A total of 66 children with mild persistent atopic bronchial asthma (aged 6 to 18 years old) were examined. Group A included 34 children who received magneto-laser therapy together with basic asthma treatment (low dose of inhaled corticosteroids). Group B included 32 children who received only basic asthma therapy. The level of CD203с + , CD203с + CD63 + , CD203с + IgE + basophils was determined in peripheral blood in the beginning of the study, after 2 weeks and after 3 months. Results. A statistically significant decrease in the absolute levels of CD203с+CD63+ and CD203с + IgE + basophils and in the relative level of CD203с + IgE + among all CD203с + basophils was determined in group A after magneto-laser therapy. The comparison of group A and group B indices revealed a significant difference between the relative level of CD203с + IgE + basophils after 12-15 days from the beginning of the study. This indicator was significantly lower in group A than in group B (p<0.05). The absolute level of CD203с + IgE + basophils was significantly lower in group A in comparison with group B after 82-90 days (p<0.05). Conclusions. Magneto-laser therapy can change the phenotype of basophils in children with atopic bronchial asthma, causing suppression of proallergic pa-rameters. Considering these results there is reason to believe, that it is possible to use this method as an additional immunocorrective treatment in patients with basophilic phenotype of atopic asthma.

Abstract TP210: The Genetic Polymorphisms in Oxidative Stress Genes, Superoxide Dismutase and Glutathione Peroxidase, Correlated With Ischemic Stroke

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Binod Kumar Yadav ◽  
Renu Yadav ◽  
Byoung-Soo Shin
Keyword(s):  
Oxidative Stress ◽  
Superoxide Dismutase ◽  
Glutathione Peroxidase ◽  
Clinical Chemistry ◽  
Biochemical Parameter ◽  
Antioxidant Systems ◽  
Stress Genes ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp

Background: Reactive oxygen species (ROS) are controlled by endogenous antioxidant systems that include superoxide dismutase (SOD), glutathione peroxidase (GPx), catalase and antioxidant vitamins. Defect in these systems may develop oxidative stress, and different studies have shown the profound effect of oxidative stress in the stroke because of high susceptibility of the brain to ROS-induced damage. Superoxide is dismutated to H 2 O 2 by SOD which is further converted to H 2 O and O 2 by GPx or catalase in the mitochondria and the lysosomes. The present study was aimed to investigate the association of SOD and GPx polymorphisms in the development of stroke. Methods: A total 982 subjects ( 674 patients, 308 controls) were recruited in this study. Genotyping of SOD1 ( rs1041740 ), SOD2 ( rs4880 ), GPx1 ( rs1050450 ) were performed by LightCycler real-time PCR using LightSNiPreagents and FastStartDNAMasterHybProbe while genotyping of GPx4 ( rs713041 ) were done by PCR-RFLP were done by PCR-RFLP. All biochemical parameter were measured in automated clinical chemistry analyzer, at department of laboratory medicine. Results: Our study demonstrated that the CC+CT/TT genotype of rs4880 significantly increased the risk of stroke (AOR=1.57, 95%CI=1.10-2.24) and SAD-stroke (AOR=1.64, 95%CI=1.17-2.41) compared with CC genotype. In GPx polymorphsims, rs1050450 showed no association with stoke, while rs713041 and the combination analysis of rs1050450 with rs713041 demonstrated the significant association for the stroke development. Interestingly, the inter-combined effect of genetic polymorphism of SOD/GPx showed the significant association for the stroke. Most of the genotypes of these SNPs demonstrated significant difference between control and stroke cases on different biochemical parameters. Conclusion: This study suggests a possible role for oxidative stress in the risk of stroke and clearly states that genetic component of stroke is polygenic as altered SOD and GPx genes interaction showed increased risk for stroke development

A polymorphic marker Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population

2016 ◽  
Vol 62 (3) ◽  
pp. 4-8
Author(s):  
Zhainagul T. Isakova ◽  
Elnura T. Talaibekova ◽  
Diana A. Asambaeva ◽  
Alina S. Kerimkulova ◽  
Olga S. Lunegova ◽  
...  
Keyword(s):  
Abdominal Obesity ◽  
Polymorphic Marker ◽  
Genotype Frequencies ◽  
Homozygous Genotype ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
And Control ◽  
Male Subjects ◽  
Kyrgyz Population

Aim — in this study, we investigated whether polymorphisms Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population.Material and methods. We genotyped 297 nonrelated adults Kyrgyz individuals. 127 patients (male — 46, female — 81, average age — 53±7,0) with abdominal obesity (elevated waist circumferences ≥102 cm for male subjects and ≥ 88 cm for female) and 170 non-obese control subjects (male — 107, female — 63, average age 51±9). Val109Asp polymorphisms analysis in the omentin gene were performed by PCR-RFLP method.Results. There were significant differences in genotype distributions of rs2274907 between the obese and control cohorts (p=0.01). Frequencies of Asp109Asp, Val109Asp and Val109Val genotypes among patients with abdominal obesity were 48, 40 and 12%, respectively, that differed from those among controls (Asp109Asp — 53%, Val109Aspl — 43% and Val109Val — 4%); there was significant difference in genotype frequencies between two groups (χ²=6,29; p=0,043). Homozygous genotype Val109Val was more frequent in the obese than non-obese group. The genotype Val109Val of omentin gene is associated with a high risk of developing abdominal obesity in the Kyrgyz population (OR=3,12; 95% CI 1,23—7,90). Homozygous genotype Asp109Asp, reduces the risk of developing abdominal obesity (OR=0,82; 95% CI 0,53—1,30). The allelic variants of the polymorphisms Val109Asp in the omentin gene were not found to be associated with abdominal obesity.Conclusion. There is significant association between Val109Asp polymorphism in omentin gene and abdominal obesity in the Kyrgyz Population. An increased risk of abdominal obesity associated with homozygous genotype — Val109Val in omentin gene.

scholarly journals Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population

Medicina ◽  
2019 ◽  
Vol 55 (1) ◽  
pp. 8 ◽  
Author(s):  
Nguyen Thuy Duong ◽  
Nguyen Thy Ngoc ◽  
Nguyen Tran Minh Thang ◽  
Bach Thi Hoai Phuong ◽  
Nguyen Thanh Nga ◽  
...  
Keyword(s):  
Uric Acid ◽  
Serum Uric Acid ◽  
Nucleotide Polymorphisms ◽  
Ethnic Populations ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
And Control

Background and objective: Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the association study of genetic variants with gout remains unknown in the Vietnamese population. Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materials and methods: Genomic DNA was extracted from blood of a total of 170 patients with gout and 351 healthy controls. We genotyped single nucleotide polymorphisms (SNPs): rs72552713, rs12505410 of the ABCG2 gene and rs11231825, rs7932775 of the SLC22A12 gene using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and then confirmed 10% of randomly selected subjects by Sanger sequencing. Results: Three SNPs (rs72552713 and rs12505410 and rs11231825) were in accordance with Hardy–Weinberg Equilibrium (HWE) (p > 0.05) while rs7932775 was not (p < 0.05). For rs72552713, CT genotype was significantly different between gout patient and control groups (p < 0.001) and the T allele was associated with an increased risk of gout (OR = 21.19; 95% CI: 3.00–918.96; p < 0.001). Serum uric acid and hyperuricemia differed significantly between CC and CT genotype groups (p = 0.004 and 0.008, respectively). For rs11231825, a protective effect against gout risk was identified in the presence of the C allele when compared with the T allele (OR = 0.712; 95% CI: 0.526–0.964 p = 0.0302). In contrast, no significant difference of allele frequencies between gout patients and controls was detected for rs12505410 (p > 0.05). However, significant differences in serum uric acid and systolic blood pressure were obtained among gout patients. Conclusion: Our results suggest that ABCG2 rs72552713 and SLC22A12 rs11231825 are likely associated with gout in the Vietnamese population in which T allele may be a risk factor for gout susceptibility.

scholarly journals Assessment of Carotid Artery Distensibility and Elasticity in Patients with Asthma

2021 ◽  
Author(s):  
Hatice Eylül Bozkurt Yılmaz ◽  
Mustafa Yılmaz
Keyword(s):  
Severe Asthma ◽  
Persistent Asthma ◽  
Control Group ◽  
Control Groups ◽  
Asthmatic Patients ◽  
Increased Risk ◽  
Significant Difference ◽  
Healthy Control ◽  
Carotid Distensibility ◽  
And Control

As asthma and atherosclerosis have similar pathophysiological mechanisms and risk factors, asthmatic patients may have an increased risk of atherosclerosis. This study aimed to determine the possibility of a higher risk of atherosclerosis in asthma patients compared with healthy controls by measuring carotid elasticity and distensibility. This was a cross-sectional study on 326 participants including 221 patients (129 [58.37%] females) with persistent asthma, aged 46.47±11.58 years, body mass index (BMI) of 29.74±3.99, and 105 healthy control subjects (60 [57.14%] females) aged 46.08±11.35 years, and BMI of 29.42±3.76. Of the 221 patients with asthma, 75 (33.93%) had mild, 74 (33.48%) had moderate and 72 (32.57%) had severe asthma. The carotid distensibility and elasticity were recorded and compared in both patients and control groups. There was no statistically significant difference between the patients and healthy control groups in terms of age, BMI and gender (p=0.775, p=0.482, and p=0.834, respectively). A statistically significant difference was determined between the patient and control groups in respect of both distensibility and elasticity (10.93±1.64 vs. 11.5±1.31, p=0.002 and 0.21±0.03 vs. 0.22±0.04, p=0.001, respectively). Statistically significant differences were determined between the control group and the asthma subgroups in respect of distensibility and elasticity (p<0.001, for both comparisons). The results showed that the difference was mainly due to the patients with severe asthma. Carotid distensibility and elasticity were decreased in asthmatic patients, and the main reason for this decrease was the patients in the severe asthma group. These results may suggest that the risk of subclinical carotid atherosclerosis is increased in patients with asthma, especially those with severe asthma.

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