Significance of IL4 rs2243250 and FCER1A rs2251746 Gene Polymorphisms in the Molecular Genetic Diagnosis of Allergic Rhinitis
allergic rhinitis; IL4 rs2243250; FCER1A rs2251746; molecular genetics; single nucleotide polymorphism; IgE; precision medicine; molecular diagnosis.
AuthorsAbstractAllergic rhinitis is one of the most prevalent chronic immunoglobulin E (IgE)-mediated inflammatory disorders worldwide, imposing a substantial clinical and socioeconomic burden due to impaired quality of life, reduced productivity, and increasing healthcare costs. Although environmental allergens are major triggers, accumulating evidence indicates that genetic susceptibility plays a crucial role in disease onset, severity, and therapeutic response. Among the numerous candidate genes, the IL4 rs2243250 and FCER1A rs2251746 polymorphisms have attracted considerable attention because of their involvement in T-helper 2 (Th2)-mediated immune responses, IgE synthesis, and high-affinity IgE receptor regulation. The present study aimed to investigate the significance of these two genetic polymorphisms in the molecular genetic diagnosis of allergic rhinitis and to evaluate their potential as biomarkers for precision diagnostic strategies. A case–control study was conducted involving clinically confirmed allergic rhinitis patients and healthy controls. Genomic DNA was isolated from peripheral blood samples, followed by polymerase chain reaction-based single nucleotide polymorphism genotyping. Serum total IgE concentrations, eosinophil counts, and clinical severity according to the Allergic Rhinitis and its Impact on Asthma (ARIA) classification were assessed. Multivariate statistical analyses, logistic regression models, receiver operating characteristic (ROC) analysis, and integrated molecular risk prediction models were applied to determine the diagnostic performance of individual and combined biomarkers. The findings demonstrated significant associations between specific IL4 rs2243250 and FCER1A rs2251746 genotypes and increased susceptibility to allergic rhinitis, elevated serum IgE concentrations, enhanced eosinophilic inflammation, and greater clinical severity. The combined molecular diagnostic model incorporating both polymorphisms with immunological biomarkers exhibited superior diagnostic accuracy compared with conventional clinical assessment alone. The originality of this study lies in the development of an integrated molecular genetic framework that combines genetic polymorphisms, immunological indicators, and clinical characteristics to improve individualized diagnosis of allergic rhinitis. These findings support the implementation of molecular biomarkers in precision allergy medicine and may facilitate earlier diagnosis, improved risk stratification, and personalized therapeutic decision-making for patients with allergic rhinitis.
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