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Updated: Jun 4, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Impact of IL13 genetic polymorphisms on COPD susceptibility in the Chinese Han population
Zehua Yang1, Yamei Zheng1, Jie Zhao1
1Department of Pulmonary and Critical Care Medicine, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, 570311, Hainan, China.
Background:
Chronic obstructive pulmonary disease (COPD) is characterized by persistent respiratory symptoms and airflow limitation. Interleukin-13 (IL13), associated with T-helper type 2 cells, plays a crucial role in COPD pathophysiology. This study aimed to investigate the relationship of single nucleotide polymorphisms (SNPs) in IL13 to COPD risk.
Methods:
Five candidate SNPs of IL13 were genotyped using MassARRAY iPLEX platform in a cohort of472 COPD patients and 472 healthy controls. Logistic regression analysis was used to calculate odds ratios (ORs) and 95 % confidence intervals (CIs). Additionally, Multifactor dimensionality reduction (MDR) software was utilized to assess the combined impact of SNP-SNP interactions on COPD risk.
Results:
IL13 rs20541 (OR: 1.24, p: 0.028), rs1295685 (OR: 1.31, p: 0.006), rs848 (OR: 1.27, p: 0.016), and rs847 (OR: 1.30, p: 0.007) were associated with COPD risk. Moreover, IL13 variants were related to the increased COPD risk in females, individuals aged ≥68 year, non-smokers or non-drinkers. The optimal multi-locus model was identified as the combination of rs20541 and rs1295685.
Conclusion:
Our findings indicated the association between IL13 variants and an elevated risk of developing COPD, especially rs1295685 and rs847. These findings could have implications for understanding the role of IL13 variants in COPD predisposition.
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