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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin 18 receptor 1 gene polymorphisms are associated with asthma
Guohua Zhu1, Moira K B Whyte, Jorgen Vestbo
1Genetics, GlaxoSmithKline, Research Triangle Park, NC 27709, USA.
Genetic variations in the interleukin 18 receptor (IL18R1) gene are significantly associated with asthma. This study identifies specific IL18R1 polymorphisms linked to asthma, atopic asthma, and bronchial hyper-reactivity, supporting its role in respiratory disease.
Area of Science:
- Genetics
- Immunology
- Respiratory Medicine
Background:
- The interleukin 18 receptor (IL18R1) gene is a key candidate for asthma due to its role in inflammation.
- IL18R1 maps to a known asthma susceptibility locus on chromosome 2q12, suggesting a genetic link.
Purpose of the Study:
- To investigate the association between polymorphisms in the IL18R1 gene and asthma.
- To analyze the relationship between IL18R1 gene variations and asthma, atopic asthma, and bronchial hyper-reactivity (BHR).
Main Methods:
- Genotyping of seven single nucleotide polymorphisms (SNPs) in the IL18R1 gene.
- Family-based association analyses were conducted in 294, 342, and 100 families from Denmark, the UK, and Norway.
- Phenotypes analyzed included asthma, atopic asthma, and bronchial hyper-reactivity (BHR).
Main Results:
- Multiple IL18R1 SNPs showed significant associations with asthma, atopic asthma, and BHR across Danish, UK, and Norwegian populations.
- Replicated associations were found for three intronic SNPs (rs1420099, rs1362348, rs1974675) with asthma-related phenotypes.
- Combined population analyses revealed strong associations between IL18R1 polymorphisms and asthma, atopic asthma, and BHR.
Conclusions:
- The study demonstrates a significant association between polymorphisms in the IL18R1 gene and asthma.
- These findings support IL18R1 as a genetic factor contributing to asthma susceptibility and its related phenotypes.
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