Investigation of some gene expressions which affect childhood asthma and its fenotypical characteristics and their functional effects

Objective: Most common associated genes in the pathogenesis of asthma are GSDMB and ORMDL3 genes. In this study of childhood asthma, the relationship between exhaled breath nitric oxide (FeNO), asthma control test (ACT), asthma control level (ACL), asthma control questionary (ACQ), asthma severity (AS) and ORMDL3 and GSDMB gene expression is aimed to be investigated. Materials and Methods: In this study, 59 asthmatic and 38 control group children were diagnosed. Patients' age, gender, family history of atopy, household smoking, dampness, mold, animal and cockroach exposure and atopic disease status was learned. Eosinophil count, pulmonary function test, reversibility testing, exercise challenge test (ECT), and allergy skin test results, and GSDMB ORMDL3 normalized gene expression levels (ΔCq values) of cases were determined. ACT and ACQ were applied to patients and ACL, AS and FeNO levels were determined. Results: Positive correlations between FeNO levels and ACT scores (r=-0.538, p=0.0001) and between FeNO levels and percent change in FEV1 (r=0.302, p=0.020) were observed. It is determined that patients with asthma have 1.83 higher fold change (FC) ORMDL3 ΔCq values. It was observed that patients with bronchial hyper-responsiveness have, at least, 14 FC higher ORMDL3 and GSDMB ΔCq values. This increase was statistically significant in GSDMB gene (p=0.012). There is a positive correlation between GSDMB ΔCq values and maximum FEV1 change percentage (r=0.289,p=0.046). When FeNO levels of patients with ≤ 25 ppb and with >25 ppb were compared it is obseved that a borderline statistical difference was avaliable (p=0.051). The relation between ORMDL3 ΔCq values and ACT scores revealed a negative correlation (r=0,418,p=0.003). ACT scores of patients with ≤15 and with ≥25 showed statistical difference (p=0.015). Conclusion: ORMDL3 and GSDMB gene expression levels in childhood asthma could lead to the emergence of different phenotypes. Especially, significant relationships between bronchial hyper-responsiveness in FeNO levels and ACT scores have been found. Based on these results, a larger number of subjects will be guiding for future therapeutic genetic intervention in the study of gene expression at the level of the underlying genetic mechanisms that affect the examination. Key Words: Asthma Control Scale, Astma Control Test, asthma severity, Children, nitric oxide, ORMDL3 gene expression, GSDMB gene expression