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.
Introduction: Pediatric asthma is a complex disorder involving immunologic, genetic, environmental and other factors. Objective: To evaluate the role of substitution of threonine for isoleucine at codon 164 on bronchial asthma susceptibility, severity and response to short-and long-term acting β2-adrenergic receptor agonists in children.Patients and Methods: This study was a prospective case control study, which was done in Pediatric Department of Zagazig University Hospital from Pulmonology Clinic in the period from February 2016 to February 2018. 100 children were included, 50 of them had asthma with bronchodilator and their ages ranged from 5 to 12 years (25 males and 25 females) with the mean age of 6.8 ± 2.5 years. In addition, 50 healthy age and sex matched worked as control children. All studied groups were subjected to full history taking, clinical examination, pulmonary function tests, total serum IgE and identification of adrenergic β2 receptor (ADRβ2) substitution of threonine for isoleucine at codon 164 polymorphism. Results: In this study, there was a significant association between homozygous isoleucine and increase incidence of asthma, this mean that the gene gives harmful effect when it is in a homozygous form. However, there was no statistically significant difference between asthma severity and gene polymorphism (CC, CT and TT). Conclusion: In the present study ADRβ Thr164Ile polymorphism is reported as an important variant at salbutamol refractoriness in sever asthmatics. In addition, the polymorphism form is susceptible variant to develop asthma risk.
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