Related Experiment Video
Updated: Feb 26, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
Gene polymorphism of xenobiotic detoxification in children with bronchial asthma
1Departament of Pediatrics, Ivano-Frankivsk National Medical University, Ivano-Frankivsk, Ukraine.
Insights
Genetic variations in xenobiotic detoxification genes influence childhood asthma development and severity. Specific microsomal epoxide hydrolase (mEPHX1) genotypes are linked to uncontrolled asthma and altered enzyme activity in children.
Area of Science:
- Environmental Health
- Pediatric Pulmonology
- Genetic Epidemiology
Background:
- Children's developing systems are highly susceptible to environmental toxins.
- Chronic respiratory diseases, particularly bronchial asthma, are significant health concerns in children, often linked to environmental pollutants.
- Investigating the interplay of genetic and environmental factors in childhood asthma pathogenesis is crucial.
Purpose of the Study:
- To investigate the phenotypic characteristics of bronchial asthma in children from the Pre-Carpathian region.
- To examine the association between allelic gene polymorphism of microsomal epoxide hydrolase 1 (mEPHX1) and asthma.
- To understand how xenobiotic detoxification gene variants influence asthma susceptibility and severity in pediatric populations.
Main Methods:
- Studied 94 children with bronchial asthma from the Ivano-Frankivsk region.
- Analyzed DNA isolated from peripheral blood leukocytes using commercial kits.
- Investigated the association between mEPHX1 gene polymorphism and the occurrence and severity of bronchial asthma.
Main Results:
- Specific genotypes (CC and GG) of mEPHX1 were significantly more frequent in children with uncontrolled asthma (p <0.05).
- Children with asthma frequently exhibited high enzymatic activity associated with mEPHX1 polymorphic variants (AG, AA-TT-TT).
- A 'slow' functional state of mEPHX1, indicated by specific homozygous and heterozygous genotypes (CC-AA, TC-AA), was also common.
Conclusions:
- Individual variations in the metabolic activity of xenobiotic detoxification genes, specifically mEPHX1, impact the eco-determined manifestation of bronchial asthma.
- The study highlights the role of genetic polymorphisms in mEPHX1 in influencing asthma phenotypes and severity in children.
Introduction:
Children are the most susceptible to harmful external factors due to the incomplete development of all functional body systems. The ecological situation the problem of influence of genetic and environmental factors on the pathogenesis of chronic respiratory diseases in children and its investigation is very impotent today. Among it the bronchial asthma is a leader among bronchial and pulmonary diseases caused by the influence of pneumotropic pollutants. The aim of our research was to study the phenotypic characteristics of asthma in Pre-Carpathian children with different types of allelic gene polymorphism of the first phase of xenobiotic detoxification of microsomal epoxide hydrolases (mEPHX1).
Material And Methods:
The phenotypic peculiarities of bronchial asthma in 94 children from Ivano-Frankivsk region with different types of allelic gene polymorphism of the first phase of xenobiotic detoxification - mEPXH1 have been investigated. The material of genetic investigations was DNA isolated from leukocytes of patients' peripheral blood. Isolation and purification of DNA was carried out using commercial kits DIAtom TM DNA Prep200, GenePak DNA PCR test (LLC "Laboratory IzoGen") according to the manufacturer's recommendations. The association between polymorphism of gene mEPXH1 and susceptibility to occurrence and severity of BA in children have been described.
Results:
It has been established that the manifestation of asthma as eco-determined pathology is affected by individual types of metabolic activity of genes of xenobiotic detoxification. It has been proved that patients with uncontrolled asthma have genotypes CC and GG (p <0.05) much more often. Children with asthma often have high enzymatic activity of a gene mEPHX1 (polymorphic variants of AG and AA-TT-TT). A "slow" functional state of gene mEPHX1 corresponding to homo- and hetero-zygotes for the mutant alleles: СС-АА and ТС-АА is also a frequent phenomenon.
Conclusions:
It has been established that bronchial asthma as eco-determined pathology is affected by individual variants of metabolic activity of genes of xenobiotic detoxification.
More Related Videos
08:44Identification and Characterization of Immunogenic RNA Species in HDM Allergens that Modulate Eosinophilic Lung Inflammation
Published on: May 30, 2020
09:50Impact Assessment of Repeated Exposure of Organotypic 3D Bronchial and Nasal Tissue Culture Models to Whole Cigarette Smoke
Published on: February 12, 2015
Related Concept Videos
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacokinetics in Pediatric Patients: Drug Metabolism