ASSOCIATION OF POLYMORPHIC VARIANTS OF HHIP, ADRB2 AND IL-33 GENES WITH CLINICAL MANIFESTATIONS OF BRONCHIAL ASTHMA IN CHILDREN
Alieva Y.S. Furman E.G. Kondratyeva E.I. Loshkova E.V. Sheludko V.S. Sokolovsky V.S. Ponomareva M.S. Khuzina E.A. Aishauova R.R.
2024Eco-Vector LLC
Permskij Medicinskij Zurnal
2024#41Issue 159 - 72 pp.
Objective. To study the association of polymorphic variants HHIP, ADRB2 and IL-33 genes with phenotypes of clinical course of bronchial asthma in children and effective treatment. Materials and methods. 90 patients aged from 5 to 17 with the diagnosis of bronchial asthma were included in the investigation. Diagnostic procedures were carried out in all the patients. They included the study of genetic polymorphism of HHIP, ADRB2 and IL-33 genes to establish the association with the clinical phenotypes, findings of laboratory and instrumental study determining the course of bronchial asthma and the degree of its control. Results. The study of polymorphism of HHIP, ADRB2 and IL-33 genes in children with bronchial asthma with different phenotypes of the disease revealed the association of genetic polymorphism with the severity of course of the disease as well as concomitant diseases. It was determined that allele T of genetic variant rs12504628 (T>C) of HHIP gene reduces the risk of a severe course of BA. Its protective role in the development of drug allergy was also proved. Genotype AA of ADRB2 gene is associated with reduced risks of the development of congenital defects of the tracheobronchial tree in BA. Polymorphic variants in the 4th and 6th exon of IL-33 gene are more frequently associated with moderate and severe course of asthma and base substitution in the 4th and 6th exon are associated with the severe course. Conclusions. Associations of polymorphic variants of HHIP, ADRB2 and IL-33 genes with clinical manifestations of BA in children are determined in this study. They can be considered in a personalized monitoring of the patients and can help to control the disease totally.
bronchial asthma , children , Genetic polymorphism , level of control , severity of asthma
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Department of Faculty and Hospital Pediatrics, E.A. Vagner Perm State Medical University, Russian Federation
Department of Genetics of Respiratory Diseases, N.P. Bochkov Research Centre for Medical Genetics, Moscow, Russian Federation
Department of Hospital Pediatrics, Department of Faculty Pediatrics with the Course of Childhood Diseases, Siberian State Medical University, Tomsk, Russian Federation
Department of Physics, Ben-Gurion University of the Negev, Beer-Sheva, Israel
Department of Childhood Diseases with the Courses of Cardiorheumatology and Gastroenterology, Astana Medical University, Kazakhstan
Department of Faculty and Hospital Pediatrics
Department of Genetics of Respiratory Diseases
Department of Hospital Pediatrics
Department of Physics
Department of Childhood Diseases with the Courses of Cardiorheumatology and Gastroenterology
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