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Updated: Apr 10, 2026

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Association between ORMDL3 polymorphism and susceptibility to asthma: a meta-analysis
Huimin Shi1, Dan Cheng1, Lingling Yi1
1Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan, Hubei ; Key Laboratory of Respiratory Diseases, Ministry of Health Wuhan, Hubei, China.
Summary
Genetic variations in ORMDL3, specifically rs7216389, are linked to increased asthma risk. Other ORMDL3 variants, rs11650680 and rs12603332, appear to offer protection against asthma development.
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- Asthma is a complex respiratory disease with a significant genetic component.
- The ORMDL3 gene has been implicated in asthma susceptibility, but specific single nucleotide polymorphisms (SNPs) require further investigation.
Purpose of the Study:
- To investigate the association between three ORMDL3 SNPs (rs7216389, rs11650680, rs12603332) and asthma susceptibility.
- To evaluate the role of these genetic variations in different populations and age groups.
Main Methods:
- A comprehensive meta-analysis was conducted using data from multiple databases (PubMed, EMBASE, Elsevier, Wanfang).
- Thirteen case-control studies comprising 6462 asthma cases and 7357 controls were analyzed.
- Statistical analysis involved calculating Odds Ratios (ORs) with 95% Confidence Intervals (CIs) across various genetic models.
Main Results:
- The ORMDL3 rs7216389 polymorphism was significantly associated with an increased risk of asthma in the general population.
- Subgroup analysis revealed that rs7216389 is particularly linked to asthma susceptibility in children.
- ORMDL3 rs11650680 and rs12603332 polymorphisms were associated with a decreased risk of asthma, suggesting a protective effect.
Conclusions:
- ORMDL3 rs7216389 is a significant genetic factor contributing to asthma susceptibility.
- Individuals carrying the T allele for rs7216389, particularly children and adults with TT homozygosity, face a higher risk of developing asthma.
- Conversely, the T allele in ORMDL3 rs11650680 and rs12603332 confers protection against asthma.

