The Effect of Adrenergic β2 Receptor Thr164Ile Gene Polymorphism on Asthma Risk, Severity and Response to Β2 Agonists in Egyptian Children

2020 ◽  
Vol 29 (3) ◽  
pp. 81-86
Author(s):  
Rania M. Amer ◽  
Samir Zamzam ◽  
Khalid M. Salah ◽  
Rana A. Waheed ◽  
Enas A. Tantawy
Keyword(s):  
Gene Polymorphism ◽  
Pulmonary Function Tests ◽  
Serum Levels ◽  
Asthma Severity ◽  
Amplification Refractory Mutation System ◽  
Asthmatic Children ◽  
Asthma Risk ◽  
Egyptian Children ◽  
Mutation System ◽  
Β2 Agonist

Background: Asthma is a global health problem affecting millions of adults and children. Pathogenesis of asthma is multifactorial and the genetic component is of particular importance. Objectives: To assess the role of ADRB2 Thr164Ile gene polymorphism in asthma risk, severity and response to β2 agonist therapy in Egyptian children. Methodology: The study enrolled 50 asthmatic and 50 control children. Pulmonary function tests and serum levels of IgE of asthmatic children were measured. The Thr164Ile genotypes were detected for all study subjects by Amplification Refractory Mutation System- Polymerase Chain Reaction (ARMS-PCR). Results: Serum IgE levels were significantly higher on comparing mild to moderate and severe cases (P=0.002& 0.02, respectively). The Ile/Ile genotype of Thr164Ile SNP was significantly present in asthmatic subjects (P=0.039). The Thr164Ile SNP was associated with lowered response to β2 agonist inhalation (P<0.001) but there was no association between the studied SNP and asthma severity. Conclusion: The Thr164Ile SNP can be linked to asthma risk and lowered response to β2 agonist treatment but not to asthma severity in asthmatic children.

The Effect of Vitamin D Supplementation on Clinical Outcomes of Asthmatic Children with Vitamin D Insufficiency

2020 ◽  
Vol 20 (1) ◽  
pp. 149-155 ◽  
Author(s):  
Rasoul N. Kalmarzi ◽  
Sivan Ahmadi ◽  
Ramesh Rahehagh ◽  
Asadollah Fathallahpour ◽  
Behzad Khalafi ◽  
...  
Keyword(s):  
Vitamin D ◽  
Clinical Outcomes ◽  
Pulmonary Function Tests ◽  
Clinical Status ◽  
Serum Levels ◽  
Asthma Severity ◽  
Vitamin D Insufficiency ◽  
Forced Expiratory Volume ◽  
Enzyme Linked Immunosorbent Assay ◽  
Asthmatic Children

Background: The extensive impacts of vitamin D on the immune system has gathered the attention of scholars in last years. In this regard, studies about vitamin D and incidence of asthma have showed various results. The aim of this study was to evaluate the effect of vitamin D supplements on clinical outcomes in asthmatic children with vitamin D insufficiency. Materials & Methods: This before-after interventional study was conducted on all asthmatic children who attended the Be'sat Hospital, Iran. Serum levels of 25(OH)D, asthma severity and pulmonary function tests before and after therapeutic prescription of vitamin D were evaluated. Serum levels of 25(OH)D were measured by enzyme-linked immunosorbent assay. Results: The mean age of the samples was 10.69±9.78 years and 39 subjects (57.4%) were male. The primary mean level of serum 25(OH)D (18.21±8.22, ng/mL) has significantly (p<0.05) increased after treatment (35.45±9.35, ng/mL). Also, asthma severity, forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1/FVC indicators were significantly (p<0.05) increased after treatment. Conclusion: We can conclude that therapeutic prescription of vitamin D is very effective in improving the clinical status of asthmatic children.

Genetic Variation in TNF-α, its Relation with Inflammatory Biomarkers and Susceptibility to Rheumatoid Arthritis

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Khadiga Ahmed Ismail
Keyword(s):  
Rheumatoid Arthritis ◽  
Serum Level ◽  
Functional Disability ◽  
Serum Levels ◽  
Amplification Refractory Mutation System ◽  
Reactive Protein ◽  
Tnf Α ◽  
Mutation System ◽  
Potential Factor ◽  
Factor Α

Background: Tumor necrosis Factor-α (TNF-α) is encoded and controlled by TNF-α gene, which is involved in rheumatoid arthritis (RA) susceptibility. This research aimed to identify genetic variations of TNF-α (G308A) and to establish its association with inflammatory markers in Rheumatoid Arthritis predisposition. Methods: In the present study, fifty RA patients and fifty volunteers were involved and evaluated for the C-reactive protein, rheumatoid factor, and TNF-α were estimated by ELISA, Erythrocyte Sedimentation Rate (ESR) by Wintergreen method and for TNF-α-308 G>A polymorphism by polymerase chain reaction with amplification refractory mutation system (PCR-ARMS). Results: The CRP, RF, ESR and TNF-α were significantly elevated in RA patients relative to controls. The serum level TNF-α was also significantly elevated in female patients and in patients ≥50 years. Analysis of TNF-308 gene polymorphism revealed that GG genotypes were more prevalent in RA patients than in the healthy individuals and that GG genotype may be a potential factor to RA. The G allele was more common in RA than in the control. Elevated TNF-α serum levels were significantly associated the GG genotype and functional disability in RA patients. Conclusion: TNF-α promoter 308polymorphism GG genotype may be considered as a risk factor for RA and the TNF-α serum level was significantly related to the functional disability in the disease.

scholarly journals Effects of STIP1 and GLCCI1 polymorphisms on the risk of childhood asthma and inhaled corticosteroid response in Chinese asthmatic children

2020 ◽  
Author(s):  
Juan Huang ◽  
Xiaolei Hu ◽  
Xiangrong Zheng ◽  
Jian Kuang ◽  
Chentao Liu ◽  
...  
Keyword(s):  
Pulmonary Function ◽  
Childhood Asthma ◽  
Early Onset ◽  
Pulmonary Function Tests ◽  
Nucleotide Polymorphisms ◽  
Inhaled Corticosteroid ◽  
Chinese Han ◽  
Asthmatic Children ◽  
Asthma Risk ◽  
Increased Risk

Abstract Background: Asthma is a common chronic lung disease in children. We aimed to determine the associations between stress-induced phosphoprotein 1 (STIP1) and glucocorticoid-induced transcript 1 (GLCCI1) polymorphisms and susceptibility of childhood asthma and inhaled corticosteroid (ICS) response in children. Methods: A total of 263 Chinese Han asthmatic children were recruited from the Xiangya Hospital, Central South University. Pulmonary function tests were performed before the treatment and 3 months after the treatment. 150 non-asthmatic children were recruited. Each participant's DNA was extracted from the peripheral blood and Method of MassARRAY was used to genotype the single-nucleotide polymorphisms (SNPs). Results: STIP1 rs2236647 wild-type homozygote (CC) was associated with increased asthma risk of children (OR=1.858，95% CI：1.205-2.864), but not associated with the onset age of asthma and ICS response. GLCCI1 rs37969, rs37972 and rs37973 polymorphisms were not associated with the risk of childhood asthma. However, rs37969 mutant genotypes (TT/GT) were significantly associated with increased risk of early onset asthma (OR=2.254, 95% CI: 1.068-4.757) and less improvement in PD20 (p = 0.028). We also found significant associations between rs37969, rs37972 and rs37973 mutant genotypes and less improvement in maximal midexpiratory flow (MMEF) after ICS treatment for 3 months (p=0.036, p=0.010 and p=0.003, respectively). Conclusions: STIP1 rs2236647 was associated with asthma risk of children. GLCCI1 rs37969 mutant genotypes were associated with increased asthma risk of early onset and less improvement in airway hyper-responsiveness. GLCCI1 rs37969, rs37972 and rs37973 polymorphisms might be associated with pulmonary function in childhood asthma patients after ICS treatment.

scholarly journals Relation of Asthma Control with Quality of Life among a Sample of Egyptian Asthmatic School Children

2019 ◽  
Vol 7 (17) ◽  
pp. 2780-2785
Author(s):  
Hala G. Elnady ◽  
Lobna S. Sherif ◽  
Rania N. Sabry ◽  
Dina Abu Zeid ◽  
Hanan Atta ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Asthma Control ◽  
Asthma Severity ◽  
Physical Symptoms ◽  
Life Questionnaire ◽  
Asthma Control Questionnaire ◽  
Asthmatic Children ◽  
Asthmatic Patients ◽  
Egyptian Children

BACKGROUND: Asthma is considered a chronic health illness that not only resulted in physical symptoms but also emotional effects. It is; therefore, so important to assess the quality of life of asthmatic patients besides their level of disease control. AIM: To determine the correlation of asthma control with the health-related quality of life (HRQOL) of asthmatic children in Egypt. METHODS: One hundred and twenty-eight asthmatic Egyptian children were enrolled in the study. They were subjected to asthma severity grading, asthma control questionnaire (ACQ) and pediatric asthma quality of life questionnaire (PAQLQ). Studied cases were taken from 6 primary and preparatory schools, Giza governorate. RESULTS: The mean child control score was significantly higher in not well-controlled asthmatics compared to well-controlled asthmatics (p < 0.005). The not well controlled asthmatic children showed significantly lower activity limitation score, symptoms score, and overall asthmatic score compared to controlled asthmatic children (p < 0.05). The severity of asthma shows significant positive correlation with symptoms score, emotional function score and overall asthmatic score (p < 0.05). CONCLUSION: The quality of life for the asthmatic children is strongly correlated with the level of asthma control and severity.

Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

2019 ◽  
pp. 1-6
Keyword(s):  
Gene Polymorphism ◽  
Polycystic Ovarian Syndrome ◽  
Cytotoxic T Lymphocyte ◽  
Reproductive Age ◽  
Amplification Refractory Mutation System ◽  
Low Grade ◽  
Metabolic Disturbances ◽  
Mutation System ◽  
Ovarian Syndrome

Polycystic ovarian syndrome (PCOS) considers as the most common disorder among women during reproductive age. Its common features involve hyperandrogenism, chronic anovulation, and weight gain. Till now, the pathogenesis of PCOS stay unknown, and there is evidence considered PCOS as a low-grade inflammatory disease. Polycystic ovarian syndrome is associated with a variety of endocrine and metabolic disturbances. The present study was designed to detect the role of (CTLA-4) gene polymorphism (rs733618) with PCOS. A total of 60 PCOS patients and 30 healthy women, matching in average age and body mass index (BMI), were enrolled in this study. Patients with PCOS were attend to AL - Nahrain University High Institute for Infertility Assisted Reproductive Technology, in Baghdad between Septembers to December/2018. Blood samples were aspirated from both groups to detection (CTLA-4) gene polymorphism (rs733618) by tetra-primer amplification-refractory mutation system based on real time polymerase chain reaction (ARMS-qPCR). The obtained results revealed normal genotyping for both groups. The result of current study confirms that there is no role of (CTLA-4) gene polymorphism (rs 733618) in PCOS.

scholarly journals Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

2020 ◽  
Vol 09 (03) ◽  
pp. 164-170
Author(s):  
Mohammad Al-Haggar ◽  
Engy Osman ◽  
Abdel-Rahman Eid ◽  
Tarek Barakat ◽  
Samar El-Morsi
Keyword(s):  
Cystic Fibrosis ◽  
Cftr Gene ◽  
Sweat Test ◽  
Amplification Refractory Mutation System ◽  
Single Mutation ◽  
Sweat Chloride ◽  
Increased Risk ◽  
Egyptian Children ◽  
Mutation System ◽  
Cftr Mutations

AbstractCystic fibrosis (CF) is panethnic autosomal recessive disease that affects the exocrine glands of pancreas, lungs, and intestine. It is often misdiagnosed in developing countries as difficult-to-treat asthma. We enrolled 150 Egyptian families with one or more probands who were complaining of difficult-to-treat asthma, and 112 cases were studied extensively through history taking including pedigree construction and clinical examination. In addition, spirometry and computed tomography of the chest were done in selected cases. All cases were subjected to quantitative sweat chloride test and molecular screening for the three most common mutations of cystic fibrosis transconductance regulator (CFTR) gene (ΔF508, G542X, W1282X) using amplification refractory mutation system (ARMS) technique. Probands of difficult-to-treat asthma comprised 66 males and 46 females; their age range was 1 to 14 years. Sixty-one probands (54.5%) were carriers of one or more of the studied mutations (36 cases and 25 carriers). Six carriers of single mutations had mild respiratory symptoms and negative sweat test. The most common allele was ΔF508, 60 alleles in 56 individuals (4 were homozygous ΔF508/ΔF508) followed by W1282X in 25 individuals and G542X in 12 individuals. Allele W1282X had an increased risk of recurrent chest infection and bronchiectasis. Moreover, cases with two mutations had more severe symptoms compared with those with a single mutation. CFTR mutations and CF-related syndromes are not rare as thought in Egypt, especially among the high-risk difficult-to-treat asthma. The readily available ARMS technique is recommended for ΔF508 and/or W1282X screening on priority basis among these children.

scholarly journals Assessment of Ceruloplasmin, Hemopexin, and Haptoglobin in Asthmatic Children

2020 ◽  
Vol 8 (B) ◽  
pp. 31-37
Author(s):  
Amany M. Abd Al-Aziz ◽  
Hala Shaaban ◽  
Ahmed Talaat ◽  
Mona A. M. Awad ◽  
Radwa Ali ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Iron Homeostasis ◽  
Pulmonary Function Tests ◽  
Hemoglobin Concentration ◽  
Serum Levels ◽  
Asthmatic Children ◽  
Protein Levels ◽  
Pulmonary Functions ◽  
Significant Difference ◽  
And Control

BACKGROUND: Ceruloplasmin (Cp), haptoglobin, and hemopexin play a role in iron homeostasis and may function to modulate the systemic inflammatory response and be involved in tissue repair. We hypothesized that these proteins could be biological markers for bronchial asthma that reflect the involvement of iron oxidative stress in asthma pathogenesis. AIM: Evaluation of serum levels of proteins involved in iron homeostasis (Cp, hemopexin, and haptoglobin) in asthmatic children and their correlation to pulmonary functions. MATERIALS AND METHODS: Sixty moderate to severe persistent asthmatic children aged 6–13 years were included (30 during attacks and 30 in-between attacks). Thirty healthy matched controls were also recruited. All children were subjected to history taking, clinical evaluation and assessment of complete blood picture, serum levels of Cp, haptoglobin, hemopexin, and total IgE. Pulmonary function tests were assessed for all patients. RESULTS: Serum Cp and haptoglobin were significantly elevated in asthmatic children between attacks (448.04 ± 386.79), (993.33 ± 554.56) compared to controls (168.42 ± 13.46), (473.33 ± 350.3), (p = 0.0002, p < 0.0001) and to asthmatics during exacerbations (288.8 ± 219.6), (620 ± 467.86), (p = 0.014, p = 0.006). Serum hemopexin was significantly higher in asthmatics between attacks (509.33 ± 341.51) compared to controls (296.67 ± 158.38) (p < 0.003) but no significant difference compared to acute exacerbations (477.33 ± 396.6). No significant correlations were found between any of the assessed protein levels and pulmonary functions. Hemoglobin concentration was significantly higher among stable asthmatics compared to acute exacerbation and control groups. CONCLUSION: Cp, haptoglobin, and hemopexin can be used as a panel of non-invasive biomarkers that reflect the involvement of iron oxidative stress in asthma pathogenesis.

scholarly journals IL-23/Th17 pathway and IL-17A gene polymorphism in Egyptian children with immune thrombocbytopenic purpura

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Ahlam M. Ismail ◽  
Aliaa M. Higazi ◽  
Hanan M. Nomeir ◽  
Naglaa M. Farag
Keyword(s):  
Gene Polymorphism ◽  
Th17 Cells ◽  
Serum Levels ◽  
Enzyme Linked Immunosorbent Assay ◽  
Genotype Frequencies ◽  
Egyptian Children ◽  
Significant Difference ◽  
Healthy Control ◽  
Polymerase Chain ◽  
Cellular Immune

Abstract Background Immune thrombocytopenic purpura (ITP) is an acquired complex autoimmune thrombocytopenia. Uncontrolled cellular immune response is one of the key triggers for the loss of immune tolerance in ITP patients. The purpose of this study was to investigate the association of IL-23/Th17, IL-17A and IL-17A rs2275913 gene polymorphism with ITP in Egyptian children. Methods 60 patients with ITP and 50 healthy control children from Minia city- Egypt were involved. Serum levels of IL-23 and IL-17A were determined by enzyme-linked immunosorbent assay. The frequency of Th17 cells was measured using flow cytometer. Genotyping for IL-17A was performed via polymerase chain reaction-restriction fragment length polymorphism. Results Comparing children with ITP to controls, serum levels of IL-23 and IL-17A as well as Th17 cells percentage were significantly increased (p <  0.001). Also, higher levels of these ILs and Th17 cells percentage were associated with decreased platelet count within ITP patients (p <  0.001). Analysis of genotype frequencies for IL-17A rs2275913 polymorphism and its alleles (A, G) showed no significant difference between cases and controls. Likewise, no significant differences were demonstrated between acute and chronic ITP regarding both IL-17A rs2275913 polymorphism prevalence and levels of IL-23, IL-17A plus Th17 cells percentage. The frequency of A alleles was 85 and 86% within patients and controls, respectively. Conclusions Elevated levels of IL-23, IL-17A and Th17 cells may be involved in ITP pathogenesis while IL-17A polymorphism rs2275913 is not prevalent in Egyptian children with ITP.

scholarly journals Influence of Interleukin-6 (174G/C) Gene Polymorphism on Obesity in Egyptian Children

2017 ◽  
Vol 5 (7) ◽  
pp. 831-835 ◽  
Author(s):  
Ola M. Ibrahim ◽  
Azza A. Gabre ◽  
Sara F. Sallam ◽  
Inas R. El-Alameey ◽  
Rania N. Sabry ◽  
...  
Keyword(s):  
Serum Level ◽  
Gene Polymorphism ◽  
Serum Levels ◽  
Control Group ◽  
Obese Children ◽  
Physiological Regulation ◽  
Chronic Disorder ◽  
Egyptian Children ◽  
Obese Subjects ◽  
Group Serum

BACKGROUND: Obesity is a multi-factorial chronic disorder. A considerable number of studies have been performed to figure out whether there is an association between obesity and polymorphisms of gene IL-6 (174G/C), but the results are equivocal.AIM: This study aimed to find out whether the IL-6 (174G/C) gene was associated with the risk of developing obesity in Egyptian children.SUBJECTS AND METHODS: The study included 149 children and adolescents with age ranged between 9.5 – 18 years. Eighty-five of them were obese which BMIZ-score is > 2, and sixty-four children with BMIZ-score ≤ 2 served as control group. Serum level of IL-6 and genetic analysis for IL-6 (174G/C) gene polymorphism were done.RESULTS: Obese children had significantly higher serum levels of IL-6 as compared to those of control children (P = 0.003). A high percentage of IL-6 polymorphism GC was found in obese subjects (93.7%), while the control group had a higher percentage of IL-6 polymorphism GG (70.6 %).CONCLUSION: Our study showed that carriers of the C allele for the IL-6 (174G/C) polymorphism have higher BMI. As the G174C polymorphism is likely to affect IL-6 expression and its physiological regulation; consequently this polymorphism may affect adiposity.

scholarly journals The Effect of OPRM1 rs648893 Gene Polymorphism on Opioid Addiction in an Iranian population in Zabol: A Case-Control Study

2019 ◽  
Vol 4 (4) ◽  
pp. 143-147
Author(s):  
Alireza Rezaeifar ◽  
Fatemeh Dahmardeh
Keyword(s):  
Gene Polymorphism ◽  
Drug Addiction ◽  
Case Control Study ◽  
Case Control ◽  
Opioid Addiction ◽  
Amplification Refractory Mutation System ◽  
Mutation System ◽  
Insignificant Difference ◽  
Control Study

Introduction: Opioid addiction (OA) is a neurologically life-threatening challenge associated with socioeconomic and health concerns for individuals and society. The addictive drugs trigger neuromodulators and neurotransmitters through the opioid receptors and corresponding endogenous peptide ligands. In addition, drug addiction is reportedly related to the mu-opioid receptor (OPRM1) encoding gene and its variants. According to the role of the rs648893 polymorphism of the OPRM1 gene in numerous disorders, it has been suggested as a candidate associated with drug addiction. The present case-control study was conducted to evaluate the role of OPRM1 rs648893 polymorphism in the OA risk. Methods: To this end, the rs648893 polymorphism was genotyped by tetra amplification refractory mutation system-polymerase chain reaction among 160 Iranian subjects consisting of 105 OA cases and 155 controls. Results: According to our findings, there was no significant association between OA and the OPRM1 rs648893 gene polymorphism. Moreover, a marginally insignificant difference was found between OA cases and controls in accordance with the allelic frequencies (P=0.05) Conclusion: In general, our results reported no association between OPRM1 rs648893 gene polymorphism and OA although further research among various ethnicities with larger sample sizes is needed to draw a definite conclusion on the association of rs648893 polymorphism and other OPRM1 intronic variants with opioid and other addictions.

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