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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of IL4RA polymorphism in predicting susceptibility toward chronic obstructive pulmonary disease
Depanshi Pandit1, Parul Sharma1, Harsh Yadav2
1Department of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, Punjab, 147004, India.
Abstract:
Background: The cytokine IL-4 plays vital role in the intercellular signalling network during immune responses to allergen exposure. Methods: This cross-sectional study involved 202 chronic obstructive pulmonary disease (COPD) patients and 203 healthy individuals. The genotyping of IL4RAQ576R gene polymorphism was determined using PCR restriction fragment length polymorphism analysis. Results: Significant association between mutant genotype (GG) and combined (AA+AG) genotype for the risk of COPD was found (odds ratio [OR]: 4.32; p = 0.04). A significant protective effect was observed between the IL4RAQ576R polymorphism and Global Strategy for Obstructive Lung Disease (GOLD) stage four patients in a recessive model (AA+AG vs GG; p = 0.002). In GOLD A, a substantial relationship was found between the AG and wild-type genotypes (AA) for COPD risk (OR: 2.38; p = 0.03). A strong association was found for COPD duration of 5-10 years (OR: 8.80; p = 0.01). Conclusion: IL4RAQ576R polymorphism is associated with COPD susceptibility.
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