• Genotypic course features of the various bronchial asthma phenotypes in children

Genotypic course features of the various bronchial asthma phenotypes in children

SOVREMENNAYA PEDIATRIYA.2018.6(94):9–13; doi 10.15574/SP.2018.94.9

Banadyha N. V.
Horbachevsky Ternopil State Medical University, Ukraine

Objective: establish the principal genotypes of the ß2-adrenoreceptor Arg16Gly gene in children with different phenotypes of bronchial asthma (BA).

Materials and methods. In total 101 children with BA older than five years were examined. A full scope of mandatory and special tests was microbiocenoses

conducted. The ADRß2(Arg16Gly)rs1042713 gene polymorphism determination was provided using modified protocols with oligonucleotide primers, polymerase chain reaction and subsequent restriction fragment length polymorphism analysis. The studied genes were amplified using specific primers (Metabion, Germany). The BA phenotypes were distinguished based on the analysis of the clinical course peculiarities, major triggers upon recommendation of GINA-2017 and the order of the Ministry of Health of Ukraine No. 868 dated 08.10.2013.

Results. Patients with allergic (88.11%) and persistent BA (71.29%) prevailed among the examined patients. A comprehensive evaluation of the clinical course peculiarities and major triggers allow to isolate individual BA phenotypes. The allergen-induced (48.51%) and mixed (22.27%) phenotypes were the most frequent; the virus-induced (15.84%), effort-induced BA (7.92%) and those associated with obesity (7.92%) were less frequent forms. In the case of allergen-induced (44.90%), mixed (52.17%), associated with obesity (75.0%) and effort-induced (40.0%) BA phenotype, the disease manifested at an early age. However, the virus-induced BA phenotype debuted in 50.0% of cases in the primary school age. Among patients with asthma and unremarkable family history on allergy, the homozygous Gly16Gly variant of the ADRß2 gene was mainly detected. When family history was positive, the heterozygous Arg16Gly genotype of the ADRß2 prevailed in all phenotypes. The homozygous variant Gly16Gly (69.23%) is predominated in the patients with intermittent BA and the allergen-induced phenotype, whereas in contrast the heterozygote Arg16Gly variant of ADRß2 gene (44.44%) was observed in the patients with persistent BA.

Conclusions. In children with BA, rs1042713 Arg16Gly locus polymorphism of the ADRß2 gene is represented by the predominance of Arg16Gly variant in all phenotypes, as well as in the case of the early disease onset. The late BA manifestation is associated with the homozygous variant of Gly16Gly ADRß2. Among patients with BA and positive family history on atopy, the Arg16Gly genotype of the ADRß2 gene prevails, but in children from families where there are no cases of allergic pathology, the Gly16Gly genotype occupies a key place (53.33%). The established phenotypic features and the Arg16Gly polymorphism of ADRß2 gene in patients with BA may be employed in a preventive control program design in children at risk of atopy.

Key words: bronchial asthma, polymorphism of genes, ß-adrenoreceptors, phenotype.

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Article received: Apr 11, 2018. Accepted for publication: Sep 26, 2018.