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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.
Insights
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.
Summary:
Background. Asthma is a common childhood respiratory disease, affecting around 20% of Irish children. In other populations, vitamin D receptor (VDR) polymorphisms have been associated with asthma risk. We aimed to investigate the association between 2 VDR polymorphisms and uncontrolled paediatric asthma. Methods. 44 asthmatic children and 57 healthy volunteers were studied. The VDR TaqI gene variant in exon 9 (T/C) (rs731236) and ApaI (rs7975232) in intron 8 (C/T) were determined, using TaqMan® Assays. The lung function, serum 25-hydroxyvitamin D (25OHD) levels and other biomarkers of allergy, immunity, airway and systemic inflammation were as-sessed. Results. The distribution of T and C alleles and genotype frequencies differed significantly between asthmatics and controls for both polymorphisms (p < 0.05). A significant association was found between both TaqI [OR = 2.37, 95% CI (1.27 - 4.45), p = 0.007] and ApaI polymorphisms, and asthma risk [OR = 2.93, 95% CI (1.62 - 5.3), p = 0.0004]. No association was observed between genotypes and 25OHD levels, lung function and other biomarkers, with the exception of Interleukin-10 (IL-10) and white blood cells count (WBC). IL-10 levels were lower in asthmatics with TC genotype for TaqI polymorphism (p < 0.01) and were higher in patients with TT genotype for ApaI (p < 0.01). WBC were higher in patients with TC and CC genotypes for TaqI (p < 0.05) and lower in TT genotype for ApaI (p < 0.05). Conclusion. TaqI and ApaI polymorphisms are associated with asthma in Irish children. Further studies are warranted to investigate the importance of decreased IL-10 levels in paediatric asthmatics with specific genotypes.
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