Genome-Wide Blood DNA Methylation Profiling in Birch Pollen Allergic Patients Undergoing Allergen-Specific Immunotherapy

Allergy. 2025 Dec;80(12):3412-3423. doi: 10.1111/all.70094. Epub 2025 Oct 9.

Abstract

Background: Until now, no study has investigated the impact of allergen immunotherapy (AIT) on genome-wide DNA methylation in a longitudinal set-up. Herein, we investigated whether differences in DNA methylation occur in birch pollen allergic patients undergoing 6 months of birch pollen AIT, assessed alterations in methylation-based blood cell type composition, and correlated DNA methylation to serological AIT biomarkers.

Methods: We performed genome-wide DNA-methylation analysis on bisulfite-converted DNA derived from whole blood samples of 16 birch pollen-allergic patients (pre-/post-birch pollen AIT) and 15 placebo (pre-/post-placebo treatment).

Results: Our analysis identified cg22187251, located within a regulatory region upstream of the glucosaminyl (N-acetyl) transferase 2 (GCNT2) gene and cg22336863 upstream of the transcription start site of actin binding rho activating protein (ABRA), as hypermethylated. Functional assays revealed that these regions exhibit methylation-dependent promoter and enhancer activities. We identified differentially methylated positions within the HLA gene complex, and an AIT-specific increase of CD8+ T cell populations accompanied by a decrease in natural killer (NK) cell proportion. Strong to moderate correlations with clinical biomarkers (such as specific IgG4) were observed for 42% of the top 100 differentially methylated positions.

Conclusion: GCNT2 and ABRA are implicated in Rho-signaling, a pathway involved in Th2 differentiation. GCNT2 modulates the SMAD-dependent TGF-β pathway, indicating a role in mediating AIT-induced immunotolerance. This is the first longitudinal study investigating DNA methylation changes induced by birch pollen AIT.

Keywords: CD8+ T cells; DNA methylation; HLA; NK cells; allergen‐specific immunotherapy; birch pollen allergy; epigenome‐wide DNA methylation study.

MeSH terms

  • Adult
  • Allergens* / immunology
  • Betula* / immunology
  • Biomarkers
  • DNA Methylation*
  • Desensitization, Immunologic* / methods
  • Female
  • Genome-Wide Association Study
  • Humans
  • Male
  • Middle Aged
  • Pollen* / immunology
  • Rhinitis, Allergic, Seasonal* / blood
  • Rhinitis, Allergic, Seasonal* / genetics
  • Rhinitis, Allergic, Seasonal* / immunology
  • Rhinitis, Allergic, Seasonal* / therapy

Substances

  • Allergens
  • Biomarkers