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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of ORMDL3, STAT6 and TBXA2R gene polymorphisms with asthma
M S Kavalar1, M Balantic, M Silar
1University Clinical Centre Maribor, Maribor, Slovenia.
International Journal of Immunogenetics
|October 25, 2011
Summary
Genetic variations in ORMDL3 are linked to childhood asthma risk, particularly nonatopic asthma. STAT6 and TBXA2R gene polymorphisms were not associated with asthma susceptibility but showed links to related symptoms like wheezing and rhinitis.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Childhood asthma is a prevalent chronic disease influenced by genetic factors.
- ORM1-like 3 (ORMDL3), signal transducer and activator of transcription 6 (STAT6), and thromboxane A2 receptor (TBXA2R) are candidate genes for asthma.
- Genetic polymorphisms in these genes may contribute to asthma susceptibility and phenotypes.
Purpose of the Study:
- To investigate the association of specific polymorphisms in ORMDL3, STAT6, and TBXA2R with childhood asthma risk.
- To explore the relationship between these genetic variations and various asthma phenotypes and symptoms.
- To confirm ORMDL3 as a candidate gene for childhood asthma.
Main Methods:
- Genotyping of 154 children with asthma and 71 healthy controls using an allelic discrimination assay.
- Analysis of polymorphisms rs4795405 in ORMDL3, rs324011 in STAT6, and rs8113232/rs3786989 in TBXA2R.
- Assessment of asthma risk, phenotypes (e.g., nonatopic asthma, asthma without rhinitis), and symptoms (e.g., wheezing, rhinitis).
Main Results:
- The ORMDL3 polymorphism rs4795405 showed a suggestive association with overall asthma risk.
- This ORMDL3 polymorphism was significantly associated with nonatopic asthma and asthma without rhinitis.
- STAT6 (rs324011) was associated with recurrent early childhood wheezing, and TBXA2R (rs8113232) was suggestively associated with rhinitis in asthmatic children.
- No significant association was found between STAT6 or TBXA2R polymorphisms and asthma susceptibility.
Conclusions:
- ORMDL3 is confirmed as a candidate gene for childhood asthma susceptibility.
- STAT6 and TBXA2R polymorphisms are not primary risk factors for asthma but are linked to asthma-related symptoms.
- Further research into these genetic associations can aid in understanding asthma heterogeneity and developing targeted therapies.
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