Jovicic N, Babic T, Dragicevic S, Nestorovic B, Nikolic A
Department of Pulmonology and Allergology, University Children's Hospital, Belgrade, Serbia.
Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Balkan J Med Genet. 2018 Oct 29;21(1):33-38. doi: 10.2478/bjmg-2018-0007. eCollection 2018 Jun.
Inhaled β2 adrenergic receptor (β2-AR) agonists are the mainstay of asthma therapy. The β2-AR protein is encoded by the gene and variants within this gene can have significant consequences for modulating the response to asthma therapy. This cross-sectional study performed at the University Children's Hospital in Belgrade, included 54 children with asthma. The subjects were genotyped for ADRB2 +46A>G (Arg16Gly, rs1042713) and +79C>G (Gln27Glu, rs 1042714) polymorphisms and the association with asthma severity and response to inhaled salbutamol was examined. In Serbian asthmatic children, allele +46A was detected with a frequency of 41.7% and allele +79G was detected with a frequency of 23.1%. Allele +46G was found to be associated with a better response to inhaled salbutamol ( <0.05) and with mild form of asthma ( <0.05). Polymorphism ADRB2 +46A>G may be a determinant of asthma severity and response to salbutamol in children with asthma. We did not find any association of +79C>G polymorphisms with the asthma severity and bronchodilator response to inhaled salbutamol. The results of this study can be potentially useful for personalization of asthma treatment.
吸入性β2肾上腺素能受体（β2-AR）激动剂是哮喘治疗的主要药物。β2-AR蛋白由该基因编码，该基因内的变异可能对调节哮喘治疗反应产生重大影响。这项在贝尔格莱德大学儿童医院进行的横断面研究纳入了54名哮喘儿童。对受试者进行了ADRB2 +46A>G（Arg16Gly，rs1042713）和+79C>G（Gln27Glu，rs 1042714）多态性基因分型，并检测了其与哮喘严重程度及吸入沙丁胺醇反应的相关性。在塞尔维亚哮喘儿童中，+46A等位基因的检测频率为41.7%，+79G等位基因的检测频率为23.1%。发现+46G等位基因与吸入沙丁胺醇的更好反应相关（<0.05），并与轻度哮喘相关（<0.05）。ADRB2 +46A>G多态性可能是哮喘儿童哮喘严重程度及对沙丁胺醇反应的一个决定因素。我们未发现+79C>G多态性与哮喘严重程度及吸入沙丁胺醇的支气管扩张剂反应之间存在任何关联。本研究结果可能对哮喘治疗的个体化有潜在帮助。
