The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children
Osman, H., Moustafa, K., Riad, N., Shaaban, H., El Basha, N. (2020). The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children. EKB Journal Management System, 18(2), 71-77. doi: 10.21608/ejpa.2020.31274.1008
Hanan Mohsen Osman; Karima Abdallah Abd El-kader Moustafa; Nermine Magdi Riad; Hala Hamdy Shaaban; Noussa Ragab El Basha. "The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children". EKB Journal Management System, 18, 2, 2020, 71-77. doi: 10.21608/ejpa.2020.31274.1008
Osman, H., Moustafa, K., Riad, N., Shaaban, H., El Basha, N. (2020). 'The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children', EKB Journal Management System, 18(2), pp. 71-77. doi: 10.21608/ejpa.2020.31274.1008
Osman, H., Moustafa, K., Riad, N., Shaaban, H., El Basha, N. The effect of BclI polymorphism of NR3C1 gene on asthma phenotypes in Egyptian children. EKB Journal Management System, 2020; 18(2): 71-77. doi: 10.21608/ejpa.2020.31274.1008

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

The Egyptian Journal of Pediatric Allergy and Immunology
Article 5, Volume 18, Issue 2, October 2020, Page 71-77  XML PDF (216.7 K)
Document Type: Original Article
DOI: 10.21608/ejpa.2020.31274.1008
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Authors
Hanan Mohsen Osman email orcid 1; Karima Abdallah Abd El-kader Moustafa2; Nermine Magdi Riad3; Hala Hamdy Shaaban4; Noussa Ragab El Basha5
1pediatrics, Faculty of medicine, Cairo university, Cairo ,Egypt
2Pediatrics, Faculty of medicine, Cairo university, Cairo, Egypt
3Clinical and Chemical Pathology Faculty of Medicine , Cairo University, Cairo, Egypt
4pediatrics and pediatric pulmonology, Faculty of Medicine, Cairo University, Cairo, Egypt
5Pediatrics, Faculty of medicine, Cairo University, Cairo, Egypt
Abstract
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.
Keywords
Asthma; Glucocorticoid; Bcl I polymorphisms; Asthma control
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