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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Polymorphisms in IL13 pathway genes in asthma and chronic obstructive pulmonary disease
B Beghé1, I P Hall, S G Parker
1Department of Oncology, Haematology and Respiratory Diseases, University of Modena and Reggio Emilia, Italy.
Allergy
|October 3, 2009
Summary
Single nucleotide polymorphisms (SNPs) in the Interleukin-13 (IL13) pathway are linked to asthma and atopy. Certain IL13 and IL4RA SNPs also show associations with chronic obstructive pulmonary disease (COPD) risk and severity.
Area of Science:
- Genetics
- Pulmonology
- Immunology
Background:
- Asthma and COPD are complex respiratory diseases influenced by genetic and environmental factors.
- Interleukin-13 (IL13) is implicated in the pathogenesis of both asthma and COPD.
- Investigating single nucleotide polymorphisms (SNPs) within the IL13 pathway may elucidate disease susceptibility and severity.
Purpose of the Study:
- To examine the association between SNPs in the IL13 pathway and the susceptibility and severity of asthma and COPD in adults.
- To determine the impact of these genetic variations on atopy phenotypes and lung function.
Main Methods:
- Genotyping of twelve SNPs across IL4, IL13, IL4RA, IL13RA1, IL13RA2, and STAT6 genes.
- Association analysis using genotype and allele models in asthma (n=299) and COPD/healthy smoker (n=992) cohorts.
- Linear regression to assess the effect of polymorphisms on baseline lung function (FEV1, FEV1/FVC).
Main Results:
- Three IL13 SNPs (rs1881457, rs1800925, rs20541) were associated with atopy risk in asthmatics.
- One IL4RA1 SNP (rs1805010) linked to asthma severity; IL13 SNPs showed borderline significance.
- IL13 SNPs (rs2066960, rs20541, rs1295685) associated with COPD risk and reduced lung function.
- A specific IL13RA1 SNP (rs2250747) correlated with COPD and lower FEV1 in females.
Conclusions:
- IL13 SNPs in promoter and coding regions, and to some extent IL4RA SNPs, may contribute to atopy and asthma.
- Tentative evidence suggests IL13 coding region SNPs are significant for COPD susceptibility.
- Genetic variations in the IL13 pathway play a role in respiratory disease development and progression.
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