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Updated: Mar 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Association between IL1R1 gene polymorphisms and childhood asthma]
Yan Liu1, Sheng Liu, Hong-Hui Wu
1Department of Pediatrics, Xianning Central Hospital, Xianning, Hubei 437100, China. liusheng_86@126.com.
The IL1R1 gene single-nucleotide polymorphism (SNP) rs949963 is linked to increased asthma susceptibility in Central Chinese children. This genetic variation may also elevate IL1R1 serum levels, potentially contributing to asthma development.
Area of Science:
- Genetics and immunology research
- Pediatric respiratory diseases
- Molecular epidemiology
Context:
- Asthma is a common chronic respiratory disease in children.
- Genetic factors play a significant role in asthma susceptibility.
- The Interleukin-1 Receptor 1 (IL1R1) gene is a potential candidate for asthma association studies.
Purpose:
- To investigate the association between two single-nucleotide polymorphisms (SNPs) in the IL1R1 gene (rs1558641 and rs949963) and asthma susceptibility in children.
- To determine if IL1R1 serum levels differ between asthmatic children and healthy controls.
Summary:
- A case-control study involving 208 children with asthma and 223 healthy children from Central China was conducted.
- Genotyping of IL1R1 SNPs rs1558641 and rs949963 was performed using polymerase chain reaction-restriction fragment length polymorphism.
- The IL1R1 gene SNP rs949963 showed a significant association with increased asthma susceptibility (P<0.05) and higher serum IL1R1 levels (P=0.011) in the asthma group.
Impact:
- The findings suggest that IL1R1 SNP rs949963 is a potential genetic marker for asthma susceptibility in the studied pediatric population.
- Elevated serum IL1R1 levels associated with the rs949963 GG genotype may indicate a role in asthma pathogenesis.
- This research contributes to understanding the genetic underpinnings of childhood asthma in Central China.
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