| Title: | Characterization of genetic loci associated with allergic conjunctivitis |
| Journal: | The Journal of Allergy and Clinical Immunology |
| Published: | 31 Dec 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/41482248/ |
| DOI: | https://doi.org/10.1016/j.jaci.2025.12.1000 |
Publication 16936
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
BACKGROUND: Despite the high prevalence of allergic conjunctivitis, the genetic factors contributing to it have not been characterized in detail.</p>
OBJECTIVE: We aimed to characterize genetic factors associated with allergic conjunctivitis both in relation to and independent of systemic atopic or allergic conditions.</p>
METHODS: We performed a genome-wide association study (GWAS) meta-analysis utilizing data from FinnGen, Estonian biobank and UK biobank. 45 734 cases with allergic conjunctivitis and 1 084 159 controls were included. We conducted a phenome-wide association study, pathway and enrichment analyses, and assessed genetic correlations with other phenotypes.</p>
RESULTS: Genome-wide significant (p < 5 × 10-8) associations were identified for allergic conjunctivitis at 34 loci, many of which had not been reported to associate with allergic conjunctivitis before. Many of the associated loci included genes involved in immunology and allergy-related conditions, e.g., ID2 and TSLP. Several loci were also associated with other allergic health conditions, such as asthma, allergic rhinitis and eczema. Three loci (EIF2AK2, RANBP2, NFAT5) had no previous association to allergy-related phenotypes. We detected that allergic conjunctivitis is associated with pathways related to neuroinflammation, immune responses and cytokine signaling. We detected an enrichment of genes associated with immune-related biological processes such as cytokine production. Allergic conjunctivitis was genetically correlated with 27 phenotypes.</p>
CONCLUSIONS: We identified 34 allergic conjunctivitis associated loci, majority of which were involved in immunology and allergy-related conditions. Our findings underline the central role of inflammation-related genes in genetic predisposition to allergic conjunctivitis and advance the overall understanding of its genetic background.</p>
11 Authors
- Fredrika Koskimäki
- Katri Ruokamo-Korva
- Oona Ahokas
- Johanna Liinamaa
- Kadri Reis
- Anu Reigo
- Estonian Biobank Research Team FinnGen
- Priit Palta
- Johannes Kettunen
- Minna K. Karjalainen
- Ville Saarela
Enabling scientific discoveries that improve human health