Abstract ID: 26-205
IL17-related Gene Polymorphisms Associated with Orbital Inflammatory Diseases
Author: YENCHANG CHU Base Hospital / Institution: Chang Gung Memorial Hospital, Linkou
Presentation Type: ePoster Presentation
Purpose
Autoimmune-associated orbital inflammation (such as Thyroid Eye Disease, Idiopathic Orbital Inflammation, and IgG4-ROD) results from immune dysregulation. This study aims to: Investigate whether Single-Nucleotide Polymorphisms (SNPs) in IL17-related genes (IL17A, IL17F, IL17RA, and IL17RC) contribute to disease susceptibility. We also examine the association between these genetic variants and specific clinical manifestations (e.g., pain, diplopia, and eyelid retraction).
Methods
60 patients with orbital autoimmune diseases and 60 age-matched healthy controls. Candidate SNPs were selected from known hotspots. Genomic DNA was amplified via PCR and analyzed through Direct Sequencing. Standardized exams by an oculoplastic surgeon assessed symptoms like orbital pain, proptosis, and conjunctival inflammation. Associations were tested using chi-square or Fisher’s exact tests across five genetic models (homozygous, heterozygous, dominant, recessive, and additive).
Results
The SNP rs9791323 in the promoter region of IL17A was significantly associated with disease risk. Clinical Symptom Associations: Pain: Significantly linked to rs3804513 (IL17A) and rs9463772 (IL17F). Diplopia: Associated with multiple IL17A SNPs: rs8193036, rs3819024, and rs2275913. Eyelid Retraction: Correlated with variants in IL17F (rs4715290, rs11465530), IL17A (rs8193036), and IL17RC (rs708567). Conjunctival Inflammation: Strong associations found with three SNPs in IL17RA (rs4819553, rs4819958, rs4819554). Linkage Disequilibrium (LD): Analysis identified stable haplotype blocks in the promoter regions of IL17RA and IL17A.
Conclusion
The study concludes that rs9791323 in IL17A contributes to disease susceptibility, while other IL17-related SNPs influence the phenotypic variability of orbital inflammation. These findings highlight the potential for the IL-17 axis as a target for personalized immunomodulatory therapies in ocular diseases.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| DINGPING | CHEN | Chang Gung Memorial Hospital, Linkou |
| WEITZU | LIN | Chang Gung Memorial Hospital, Linkou |
| FANGPING | HSU | Chang Gung Memorial Hospital, Linkou |