Analysis of polymorphisms in T(H)2-associated genes in Russian patients with atopic bronchial asthma

J Investig Allergol Clin Immunol. 2012;22(2):126-32.

Abstract

Background: Bronchial asthma is a chronic respiratory disorder characterized by airway inflammation, airway hyperresponsiveness, and periodic reversible airway obstruction. Subtype 2 helperT cell (T(H)2) 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 flight 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Airway Obstruction / genetics
  • Airway Obstruction / immunology
  • Airway Obstruction / metabolism
  • Alleles
  • Asthma / genetics*
  • Asthma / immunology
  • Asthma / metabolism
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Immunoglobulin E / genetics
  • Inflammation / genetics
  • Inflammation / metabolism
  • Interleukin-4 / genetics*
  • Interleukin-4 / metabolism
  • Male
  • Moscow
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Receptors, IgE / genetics*
  • Th2 Cells / immunology
  • Th2 Cells / metabolism
  • Th2 Cells / physiology*
  • White People / genetics

Substances

  • MS4A2 protein, human
  • Receptors, IgE
  • Interleukin-4
  • Immunoglobulin E