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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Analysis of polymorphisms in T(H)2-associated genes in Russian patients with atopic bronchial asthma
E V Dmitrieva-Zdorova1, O E Voronko, E A Latysheva
1Laboratory of Chemical Genomics, Department for Proteomic Research, Research Institute of Biomedical Chemistry RAMS, Moscow, Russian Federation.
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.
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