THE ANALYSIS OF THE ASSOCIATION OF ADRB2 GENE POLYMORPHISM AND EXTERNAL RESPIRATORY FUNCTION IN CHILDREN WITH BRONCHIAL ASTHMA

E. Minina, V. Novikova, P. Novikov, A. Babenka, V. Gorbachev, M. Kosova, A. Kabanava, N. A. Averchankava
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Abstract

Objectives. To study the role of the ADRB2 gene polymorphism (rs1042713) in the impaired external respiratory function in children with bronchial asthma (BA). Material and methods. The study group included 60 children aged 3-17 years with allergic (n=37) and mixed form of BA (n=23). The genotyping of the investigated gene locus was performed by PCR-RFLP (polymerase chain reaction - restriction fragment length polymorphism), BA control was exercised using the Asthma Control Test (ACT). Results. The analysis of allele frequencies showed an association of allele A with normal spirogram parameters in patients with BA (p=0.042). In children under 12 years, there were statistically significant differences in spirogram indices when comparing patients with genotypes AA and GG (p=0.045). An association of allele A with the absence of pathological changes was revealed when evaluating the results of spirometry (p=0.021). There was a moderate positive correlation (r=0.615, p=0.011) between the assessment of nocturnal symptoms (Asthma Control Test) and the genotype of the ADRB2 gene polymorphism in children aged 12 years and older. Conclusions. An association of the ADRΒ2 gene polymorphism (rs1042713) with the external respiratory function was revealed in an objective study by spirometry and a subjective assessment of this indicator by the patient himself/herself or by his/her parents. This gene locus can be included in the BA target panel in order to determine the likelihood of uncontrolled course development of the disease with impaired external respiratory function and in the future to develop an individual program for dispensary observation of the patient.
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支气管哮喘患儿adrb2基因多态性与外呼吸功能的相关性分析
目标。目的:研究ADRB2基因多态性(rs1042713)在支气管哮喘(BA)患儿外呼吸功能受损中的作用。材料和方法。研究组包括60名3-17岁的过敏儿童(n=37)和混合型BA (n=23)。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对所研究基因座进行基因分型,BA对照采用哮喘控制试验(ACT)。结果。等位基因频率分析显示,BA患者的等位基因A与正常螺旋图参数存在相关性(p=0.042)。在12岁以下儿童中,AA基因型与GG基因型患者的螺旋图指标比较,差异有统计学意义(p=0.045)。当评估肺量测定结果时,发现等位基因A与无病理改变相关(p=0.021)。12岁及以上儿童夜间症状评估(哮喘控制试验)与ADRB2基因多态性基因型存在中度正相关(r=0.615, p=0.011)。结论。通过肺活量测定和患者本人或其父母对该指标的主观评价,发现ADRΒ2基因多态性(rs1042713)与外部呼吸功能存在关联。该基因位点可以包含在BA靶组中,以确定疾病不受控制的病程发展与外部呼吸功能受损的可能性,并在未来制定患者药房观察的个人计划。
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