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Original Article
 

Analysis of Polymorphisms in TH2-Associated Genes in Russian Patients With Atopic Bronchial Asthma
 

EV Dmitrieva-Zdorova,1 OE Voronko,1 EA Latysheva,2 GI Storozhakov,3 AI Archakov1

1Laboratory of Chemical Genomics, Department for Proteomic Research, Research Institute of Biomedical Chemistry RAMS, Moscow, Russian Federation
2Department of Allergology and Immunotherapy, Institute of Immunology, Moscow, Russian Federation
3Department of Hospital Therapy II, Russian State Medical University, Moscow, Russian Federation

J Investig Allergol Clin Immunol 2012; Vol. 22(2): 126-132
 

 Abstract


Background: Bronchial asthma is a chronic respiratory disorder characterized by airway inflammation, airway hyperresponsiveness, and periodic reversible airway obstruction. Subtype 2 helper T cell (TH2) cytokines play an important role in the development of allergic airway inflammation in patients with bronchial asthma.

Objective: To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4RA gene, –33C>T in the IL4 gene, and Gly237Glu in the FCER1B gene contribute to the development and severity of atopic bronchial asthma in Russian patients from Moscow.

Methods: We analyzed DNA samples from 224 patients with atopic bronchial asthma and 172 healthy individuals. Genotyping was performed by primer extension followed by matrix-assisted laser desorption/ionization–time of fl ight mass spectrometry.

Results: We observed a moderate association between the Arg/Arg genotype of Gln576Arg and protection against asthma (odds ratio [OR], 0.16; P<.012) and a strong association between the T allele and TT genotype of –33C> and atopic bronchial asthma (OR, 1.91 and 4.65, respectively; P<.0001). Carriers of the C allele had a reduced risk of asthma (OR, 0.53; P<.0001). Furthermore, we found that the TT genotype of –33C>T correlated with higher concentrations of total serum immunoglobulin E and interleukin 4 than the CC and CT genotypes.

Conclusion: We found an association between atopic bronchial asthma and the SNPs Gln576Arg in IL4RA and –33C>T in IL4. IL4RA and IL4 seem to be involved in the pathogenesis of asthma.

Key words: Atopic bronchial asthma. SNP. Association. IL4RA. IL4. FCER1B.