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Noninvasive Sampling of Mucosal Lining Fluid for the Quantification of In Vivo Upper Airway Immune-mediator Levels
Published on: August 7, 2017
Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy
Sabine Hoffjan1, Irina Ostrovnaja, Dan Nicolae
1Department of Human Genetics, University of Chicago, IL 60637, USA.
The Journal of Allergy and Clinical Immunology
|March 10, 2004
Summary
Genetic variations in immune-regulating genes are linked to early life immune responses and phenotypes. These findings suggest a potential role in the development of childhood asthma risk.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Asthma often begins in early childhood, with limited research on early immune markers.
- Candidate gene studies in adults identified potential asthma genes, but early-life associations are understudied.
Purpose of the Study:
- To investigate genetic variations influencing cytokine responses and atopic phenotypes in infants.
- To identify early clinical markers for childhood asthma risk.
Main Methods:
- Genotyped 207 European American infants for 61 single nucleotide polymorphisms (SNPs) in 35 immune-regulating genes.
- Assessed relationships between SNPs and cytokine (IL-5, IL-10, IL-13, IFN-gamma) responses, RSV-induced wheezing, atopic dermatitis, IgE levels, eosinophil counts, and allergic sensitization.
- Utilized censored and logistic regression for data analysis.
Main Results:
- Specific SNPs in FCER1B and NOS2A were associated with reduced cord blood IL-13 levels.
- An interaction between FCER1B and NOS2A polymorphisms correlated with the lowest cord blood IL-13.
- IL13 and CSF2 gene variants were linked to increased IgE and IL-5 responses, respectively.
- A TGFB1 variant was associated with respiratory syncytial virus-induced wheezing.
Conclusions:
- Genetic variations in immune-related genes are associated with early-life immune and clinical phenotypes.
- These associations may contribute to the risk of developing childhood asthma.
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