Influence of Bcl‐1 gene polymorphism of glucocortucoid receptor on phenotypic expressions of bronchial asthma

Kmyta, Vladyslava; Prystupa, Liudmyla

doi:10.1186/2045-7022-5-s2-p10

Cited by 4 publications

(3 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is characterized by airways inflammation and bronchial hyper-responsiveness where complex gene-environment interactions play a significant role in its pathogenesis. 1,2 Asthma is a disorder whose primary cause can probably be linked to the disturbed immunoregulatory mechanisms at the lymphocyte level. 3 Inflammation in asthma occurs due to excessive infiltration of cells predominantly T lymphocytes, eosinophils, neutrophils, macrophages and mast cells along with elevated levels of cytokines and tumor necrosis factor-α.…”

Section: Introductionmentioning

confidence: 99%

FOXO3a gene polymorphism and bronchial asthma in Egyptian children

Elrifai

Al-Wakeel

Osman

et al. 2019

Egypt J Pediatr Allergy Immunol

View full text Add to dashboard Cite

Background: FOXO3a proteins play multiple crucial roles in immune response. FOXO3 inhibits T cell proliferation, induces T cell apoptosis via upregulation of proapoptotic proteins and it suppresses T cell activation preventing autoimmunity. The role of FOXO3a gene in the pathogenesis of bronchial asthma has been studied in few ethnic groups and revealed its implication in asthma pathogenesis. Objectives: The aim of the current study is to detect the association between single nucleotide polymorphism of the FOXO3a gene (rs13217795) and bronchial asthma, atopy and asthma severity in Egyptian children. Methods: The current cross-sectional case-control study was performed on 75 asthmatic children aged 2 to 12 years following up in the pulmonology outpatient clinic in Children's hospital, Cairo University and 75 age and sex matched healthy controls. Candidates were subjected to clinical evaluation in addition to genotyping for the FOXO3a gene polymorphism using PCR-RFLP technique. Results: The highest frequency was for the heterozygous type CT in both cases and controls groups. The genotype frequencies of mutant type TT for cases and controls were 12 % and 16% respectively, and the T allele frequencies were 37.2% in cases and 46.7% in the control group while CC genotype was present in 37.3% of asthmatic patients and 22.6% in the controls and the C allele was detected in 62.8% and 53.3% for cases and controls respectively. No statistically significant differences were observed between asthmatic patients and controls regarding the different genotypes of the FOXO3a gene polymorphism (p=0.161). No significant association was detected between the different genotypes of the FOXO3a gene polymorphism and the atopic status (p=0.536) or the different grades of asthma severity (p= 0.545). Conclusions: The study of FOXO3a gene polymorphism (rs13217795) in asthmatic Egyptian children revealed low frequency of the mutant TT genotype among cases and controls. In the current study, FOXO3a polymorphism has no role in the pathogenesis of asthma or atopy. Moreover, it has no relation to degree of disease severity.

show abstract

Section: Introductionmentioning

confidence: 99%

FOXO3a gene polymorphism and bronchial asthma in Egyptian children

Elrifai

Al-Wakeel

Osman

et al. 2019

Egypt J Pediatr Allergy Immunol

View full text Add to dashboard Cite

show abstract

“…IL13 играет немаловажную роль в регуляции аллергического воспаления посредством активации и влияния на миграцию воспалительных клеток, [39]. В ряде работ обнаружена ассоциация аллеля rs41423247*G и генотипа rs41423247*GG с отягощенными клиническими проявлениями БА: с тяжелой формой БА у пациентов из Украины и Польши, а также с повышенным уровнем общего IgE у детей из России [40][41][42].…”

Section: полногеномный анализ ассоциаций -Gwasunclassified

Genetics of asthma

Mironova,

Trofimov,

Karunas

et al. 2024

Респираторная Медицина : Руководство : В 4 Т. 3-Е Изд., Доп. И Перераб. Т. 2.

View full text Add to dashboard Cite

“…1 Bronchial asthma is determined by many environmental and genetic factors, the clinical picture occurs as a result of complex interactions among genes, and the mutual influence of a genotype and environment upon each other. 2,3 Glucocorticoids (GCs) constitute the basic group of medication used to control inflammatory condition in patient with bronchial asthma; they regulate expression of specific genes within the cell nuclei via the Glucocorticoids \ Glucocorticoid receptor complex (GC\GR). 4 It has been estimated that approximately 100 genes are involved in the pathogenesis of asthma, NR3C1 gene (nuclear receptor subfamily 3, group C, member 1) is one of them, it encodes glucocorticoid receptor (GR) h-GR/NR3C1 which is localized on chromosome 5q31-q32 and consists of nine exons.…”

Section: Introductionmentioning

confidence: 99%

The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children

Osman

El-kader

Riad

et al. 2020

Egypt J Pediatr Allergy Immunol

View full text Add to dashboard Cite

The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children Original article Background: BclI is the promoter polymorphism observed within human glucocorticoid receptor gene (hGR/NR3C1) which plays an important role in the development of bronchial asthma (BA) and resistance to Glucocorticosteroids (GCs) in the severe BA. Objective: To assess the influence of BclI gene (rs41423247) polymorphisms on phenotypic expression of bronchial asthma in a group of Egyptian asthmatic children. Methods: This case control study included 135 asthmatic children with varying degrees of asthma severity. They were recruited from Allergy and Pulmonology Outpatient Clinic, Cairo University. Ninety healthy age and sex matched children served as the control group. Determination of BclI single nucleotide polymorphism (SNP) was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Results: Our results revealed that the variants of BclI polymorphism: CC/CG/GG was found with frequency 73.3%, 26.7%, 0% in control group. While in asthmatic children, their frequency was 42.2%, 51.1%, 6.7%, respectively. This revealed a significant difference in distribution between cases and control, similarly there was a significant difference in frequency of allele G between both groups (P-value <0.001). The frequency of allele G/C showed statistically significance association with increased severity of bronchial asthma (P-value<0.001), with uncontrolled asthma and hospitalization (P value <0.001). Conclusion: The Bcl I polymorphism of hGR/NR3C1 gene is significantly associated with bronchial asthma. The GG phenotype is significantly associated with increased susceptibility to the development of severe asthma and uncontrolled asthma symptoms, with increased risk of hospitalization.

show abstract

Influence of Bcl‐1 gene polymorphism of glucocortucoid receptor on phenotypic expressions of bronchial asthma

Cited by 4 publications

References 1 publication

FOXO3a gene polymorphism and bronchial asthma in Egyptian children

FOXO3a gene polymorphism and bronchial asthma in Egyptian children

Genetics of asthma

The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children

Contact Info

Product

Resources

About