Original Research Article
Year: 2020 | Month: September | Volume: 7 | Issue: 9 | Pages: 104-110
Single Nucleotide Polymorphism in the Promoter Region of Interleukin-4 and Risk of Asthma: TT Homozygotes May Have High Propensity of Developing Chronic Airway Remodeling
Arshiya Afreen1, S. Farhana F.A.1, Sumaya Fatima1, T.K.M. Rayees1, Nida Makeen1, Nusrath Fatima4, Ashfaq Hasan2a, Aleemuddin Naveed3, Fahad Abdullah2b, Mohd. Mohiuddin5, Mohd. Ishaq6
1Pharm-D (Doctor of Pharmacy), Department of Pharmacy Practice, Deccan School of Pharmacy, Hyderabad,
2aProfessor and Head, Department of Pulmonology, Owaisi Hospital and Research Centre (OHRC), Deccan college of Medical Sciences (DCMS), Hyderabad, India,
2bAssistant Professor, Department of Pulmonology, OHRC, DCMS, Hyderabad, India,
3Associate Professor, Department of Pulmonology, Princess Esra Hospital (PEH), DCMS, Hyderabad, India,
4Department of Genetics, Osmania University, Hyderabad,India,
5Department of Pharmacology, Deccan School of Pharmacy, Hyderabad, India,
6Professor & Head, Salar-E-Millat Research Centre for Cellular and Molecular Medicine, Princess Esra Hospital, DCMS, Hyderabad, India.
Corresponding Author: Arshiya Afreen
ABSTRACT
Background: In view of a key role played by Interleukin-4 (IL-4) in the molecular mechanisms leading to the development of asthma and its complications like chronic airway remodeling, a few reports have attempted to investigate a possible role of SNP’s in the promoter region to predict genetic risk. As it is associated with quantitative variations in IL-4 gene expression and may serve as an important candidate gene for asthma risk prediction.
Objective: To investigate the polymorphic variations, at -590 (C/T) in the promoter region of IL-4 gene.
Methods: 50 consecutively selected cases of asthma (36 females and 14 males) were recruited and genotyping for SNP at -590 C/T was done by PCR-RFLP method on the genomic DNA extracted from blood samples. Blood samples from 50 randomly selected healthy subjects served as controls. Mean values of Absolute Eosinophil Count and total serum IgE between the genotypes were compared by student’s unpaired t test. Odds-ratio analysis was carried out to determine risk of developing asthma.
Results: Odds ratio (OR) analysis revealed two-and-a-half folds increased risk of asthma for individuals with TT genotype compared to those with CC genotype. A decreased frequency of CC genotype in patients (28%) compared to controls (58%) is indicative of protective nature of CC genotype. AEC counts and total serum IgE levels were significantly higher in TT compared to CC and CT genotypes.
Conclusion: It is concluded that individuals with TT and CT genotypes (overproducers of IL-4) have high risk of developing asthma and high vulnerability to develop chronic airway remodeling.
Keywords: Asthma, IL-4 gene, SNP at -590 C/T, Serum IgE, Eosinophil counts.
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