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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Cytokine gene polymorphism and asthma susceptibility, progress and control level
Saeed Daneshmandi1, Ali Akbar Pourfathollah, Zahra Pourpak
1Department of Immunology, Tarbiat Modares University, Faculty of Medical Sciences, Tehran, Iran.
Tumor necrosis factor-alpha (TNF-α) gene variants are linked to asthma risk and reduced lung function. However, these cytokine gene variations do not impact asthma control or IgE levels.
Area of Science:
- Immunogenetics
- Respiratory Medicine
- Molecular Biology
Background:
- Asthma is a complex inflammatory condition influenced by genetic and environmental factors.
- Cytokines play a crucial role in asthma pathophysiology, affecting disease development and severity.
- Understanding the genetic basis of cytokine variations is key to managing asthma effectively.
Purpose of the Study:
- To investigate the association between specific cytokine gene polymorphisms and asthma susceptibility.
- To evaluate the impact of these polymorphisms on asthma control and lung function parameters.
- To explore the relationship between cytokine gene variants and serum immunoglobulin E (IgE) levels.
Main Methods:
- Genotyping of IL-4-C590T, IFN-γ T+874A, TNF-α-A308G, IL-6 G-174C, and TGF-β T+869C variants using PCR-based methods.
- Measurement of serum IgE levels via ELISA.
- Analysis of asthma diagnosis, control, and lung function (FEF25-75, FVC) in 81 asthmatic patients and 124 controls.
Main Results:
- The TNF-α-308GA genotype was significantly more frequent in asthmatic patients, indicating a risk factor (P = 0.025).
- IFN-γ+874AT genotype showed a positive correlation with a family history of asthma (P = 0.034).
- Certain genotypes (IL-6-174C, TNF-α-308GG, TNF-α-308G) were associated with reduced pulmonary function, while TNF-α-308GA increased FEF25-75; IFN-γ+874AA decreased FVC.
Conclusions:
- TNF-α-308GA is identified as a risk factor for asthma development.
- Cytokine gene variants do not appear to influence asthma control levels or serum IgE.
- Reduced expression variants of IL-6, TNF-α, and IFN-γ correlate with diminished lung function capacity.
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