An investigation of the association between ADRB2 gene polymorphisms and asthma in Kazakh population

Abstract

Introduction: Beta-2-adrenergic receptor (ADRB2) is present in the cells of the respiratory tract, including bronchial smooth muscle cells and bronchial epithelium, and is a target for endogenous catecholamines and drugs used to treat the obstructive lung diseases. Objectives: This study aimed to investigate the possible association of the Arg16Gly and Gln27Glu polymorphisms of the ADRB2 gene with asthma and its endophenotypes in the Kazakh population. Methods: A total of 70 asthmatic patients and 80 healthy controls were genotyped for Arg16Gly and Gln27Glu polymorphisms of the ADRB2 gene by using quantitative real-time polymerase chain reaction. Statistical analysis was performed with the Graph Pad InStat 7 Software. Results: No associations between the asthma patients and healthy individuals were found when the allele and genotype distribution of Arg16Gly and Gln27Glu single nucleotide polymorphisms were compared. Analysis of the haplotype frequencies showed statistically significant differences between patients with asthma and controls for Arg16Gly/Gln27Gln and Arg16Gly/Gln27Glu haplotypes (odds ratio [OR] = 2.12, 95% confidence interval [CI] = 0.87-5.16 and OR = 2.25, 95% CI = 0.89-5.67 respectively). The Arg16 allele and Arg16Arg genotype frequencies were higher in patients with uncontrolled asthma than in controls (χ 2 = 5.17, df = 1, P = 0.02 and χ 2 = 5.36, df = 1, P = 0.02 respectively). Conclusion:The results of this study support the possible involvement of Arg16Gly polymorphism in the development of uncontrolled asthma, and indicate that Arg16Gly/Gln27Gln and Arg16Gly/Gln27Glu haplotypes are more common in asthma patients in the Kazakh population. K E Y W O R D Sasthma, beta-2-adrenergic receptor, Kazakhstan, single nucleotide polymorphisms

Association between beta-2 adrenergic receptor variants and clinical outcomes in children and adolescents with acute asthma

“…More than 80 variants of the ADRB2 gene have been described. (7,8,(10)(11)(12) Single nucleotide variants such as c.46A>G, p.Arg16Gly (rs1042713), c.79C>G, p.Gln27Glu (rs1042714) and c.-47C-T, p.Arg19Cys (rs1042711) may interfere with the downregulation of beta-2 receptor expression. In turn, the c.491C>T, p.Thr164Ile (rs1800888) variant is associated with reduced binding affinity for bronchodilators.…”