Opinion Article - (2021) Volume 7, Issue 6
Department of Biotechnology, Osmania University, Hyderabad, Telangana, India
Received Date: June 25, 2021; Accepted Date: June 30, 2021; Published Date: July 05, 2021
Citation: Thirunahari A (2021) The STAT6 rs324011 Gene Polymorphism and Atopic Bronchial Asthma Susceptibility in Egyptian Children. Biochem Mol Biol Vol. 7, No. 6: 29.
Bronchial asthma is a widespread condition that is influenced by a variety of factors, including genetic variation. The major molecule in the signal transduction pathway employed by interleukin-4 (IL- 4) in immunoglobulin E (IgE) isotype switching is signal transducer and activator of transcription 6 (STAT6). The goal of this study was to see if a single nucleotide polymorphism (SNP) in STAT6 is linked to atopic asthma susceptibility in Egyptian children, as well as to see how the STAT6 gene polymorphism affects IL-4 and total IgE levels.
The study included 60 children with atopic asthma and 30 healthy children who served as controls. The serum IL-4 and total IgE levels were measured using the enzyme-linked immunosorbent assay technique (ELISA). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach was used to genotype the STAT6 rs324011 polymorphism.
In comparison to the rs324011 CC and CT genotypes, the rs324011 TT genotype was significantly related with increased susceptibility to developing bronchial asthma (OR=5.55, 95 percent CI=1.43-21.44). Meanwhile, individuals with CT and TT genotypes had greater serum IL-4 and total IgE levels than those with CC genotypes in the bronchial asthma group. The T allele form of the STAT6 rs324011 polymorphism may be linked to an elevated risk of atopic bronchial asthma in Egyptian children; however, more research is needed to confirm these preliminary findings.
Bronchial asthma is the world's most frequent chronic condition in children. It has a global impact of up to 300 million people. The frequency was 8.2 percent among Egyptian children aged 3 to 15 years. Genetic and environmental variables play a role in bronchial asthma. Airway hyper-reactivity, mucus overproduction, and chronic eosinophilic inflammation are all symptoms of the condition.
Atopy, or an increased total serum IgE level in response to allergen exposure, is a common feature of asthma. Many family investigations have established the role of genetic predisposition in the development of atopy in asthmatic patients using genomewide linkage studies. In asthmatic patients, increased IgE production promotes acute hypersensitivity reactions, persistent eosinophil-predominant allergic inflammation, and cytokine production by T helper-2 (Th2) cells. IL-4 is a proinflammatory cytokine that aids immunoglobulin E isotype flipping in B cells, as well as the development and differentiation of B cells and monocytes, and is mediated by activated T helper cells (Th). As a signal molecule, IL-4 can aggravate airway inflammation by regulating eosinophils, lymphocytes, and air epithelial cells, all of which play a role in asthma pathogenesis. Furthermore, IL-4 is involved in bronchial asthma phenotypic alterations such as airway hyper-responsiveness, eosinophil infiltration, and mucus overproduction.
STAT6, a JAK/STAT pathway signalling molecule triggered by IL-4 and IL-13 cytokines, is also involved in IgE production and allergic airway inflammation. STAT stands for signal transducer and activator of transcription, a group of latent cytoplasmic transcription factors that are activated by cytokine receptormediated signal transducers. STAT6 is phosphorylated, dimerized, and translocated into the nucleus after being activated by IL-4 or IL-13, where it binds to particular DNA elements TTC (N3/4) GAA inside the promoter region, activating gene transcription.
The STAT6 gene, which is 19 kb in length and has 23 exons and is found on chromosome 12q13.3–q14.1, is highly polymorphic, with hundreds of SNPs found in both coding and non-coding regions in the dbSNP database. The STAT6 rs324011 (2892C/T) SNP is present in the second intron; interestingly, the CT substitution produces an extra putative binding site for Nuclear Factor B (NF-B), resulting in increased NF-B-mediated STAT6 gene transcription and STAT6-mediated IgE production.
As a result, the purpose of this study was to look into the association between STAT6 gene polymorphism and atopic asthma susceptibility in Egyptian children, as well as the influence of STAT6 gene polymorphism on IL-4 and total IgE levels.
