Association of GATA3 gene polymorphism with allergic conjunctivitis and allergic rhinitis

Abstract

Background: The elaboration of allergic diseases as allergic conjunctivitis (AC) and allergic rhinitis (AR) is caused by the interaction between genetic predisposition and environmental factors. Trans-acting T-cell-specific transcription factor (GATA3) is a transcription factor that readjust the T helper (Th2) cell response. High expression of GATA3 in Th2 cells elevate Th2 differentiation, resulting in the release of large amounts of immunoglobulin E (IgE) from B-cells and eventually aggravating allergic disease.Objective: The present work aims to investigate the association between GATA3 single nucleotide polymorphism (SNPs) with allergic conjunctivitis and allergic rhinitis at locus rs1269486 in the promoter region using RFLP-PCR among a group of Egyptian patients. Methodology: Cross sectional study included a total of 60 participants; 20 AC patients, 20 AR patients and 20 healthy individuals. Peripheral blood samples were taken and DNA was extracted followed by RFLP-PCR to analyze GATA3 (rs1269486) SNPs. Results: A substantially higher prevalence of the homozygous rs1269486 GG genotype and G allele appeared in the AR patients and AC patients, compared to the control subjects (P-value 0.003, and 0.002 respectively). Conclusion: This study showed a highly significant association between GATA3 SNP at locus, rs1269486 in the promoter region in the studied Egyptian patients with allergic rhinitis and allergic conjunctivitis suggesting the role of GATA3 gene polymorphism in the pathogenesis of AC and AR.