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Vitamin D receptor variants and uncontrolled asthma
K Hutchinson1, C P Kerley2, J Faul3
1Biomnis Ireland, Sandyford, Dublin 18, Ireland. School of Chemistry, National University of Ireland, Galway, Ireland.
European Annals of Allergy and Clinical Immunology
|February 1, 2018
Summary
Vitamin D receptor (VDR) gene variants, specifically TaqI and ApaI polymorphisms, are linked to increased asthma risk in Irish children. These genetic factors may influence immune markers like Interleukin-10 and white blood cell counts in pediatric asthma.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Respiratory Medicine
- Immunology
Background:
- Asthma affects approximately 20% of children in Ireland, representing a significant public health concern.
- Previous research suggests a link between vitamin D receptor (VDR) gene polymorphisms and asthma susceptibility in various populations.
- Understanding genetic predispositions is crucial for identifying at-risk children and developing targeted interventions.
Purpose of the Study:
- To investigate the association between two specific VDR gene polymorphisms (TaqI and ApaI) and the risk of uncontrolled asthma in Irish children.
- To explore potential correlations between these VDR polymorphisms and key biomarkers, including lung function, vitamin D levels, and inflammatory markers.
Main Methods:
- A case-control study involving 44 asthmatic children and 57 healthy controls.
- Genotyping of VDR TaqI (rs731236) and ApaI (rs7975232) polymorphisms using TaqMan® Assays.
- Assessment of lung function, serum 25-hydroxyvitamin D (25OHD) levels, and various immune and inflammatory biomarkers.
Main Results:
- Significant differences in allele and genotype frequencies for both TaqI and ApaI polymorphisms were observed between asthmatic children and controls (p < 0.05).
- Both TaqI and ApaI polymorphisms were significantly associated with an increased risk of asthma in the studied cohort (p < 0.007 and p < 0.0004, respectively).
- While no general association was found with 25OHD levels or lung function, specific genotypes correlated with altered levels of Interleukin-10 (IL-10) and white blood cell (WBC) counts.
Conclusions:
- The study identifies TaqI and ApaI VDR polymorphisms as significant risk factors for asthma in the Irish pediatric population.
- Specific VDR genotypes are associated with altered immune profiles, including lower IL-10 levels and higher WBC counts in asthmatic children.
- Further research is needed to elucidate the clinical significance of these genotype-specific immune alterations in pediatric asthma management.
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