The Impact of Co-Stimulatory Gene Polymorphisms on the Clinical Presentation of Graves’ Ophthalmopathy
Author: YENCHANG CHU
Base Hospital / Institution: Chang Gung Memorial Hospital
ePoster presentation
Abstract ID: 25-262
Purpose
To investigate the association between single nucleotide polymorphisms (SNPs) in co-stimulatory molecules and specific clinical characteristics of Graves’ ophthalmopathy, including laterality, orbital pain, swelling, diplopia, exophthalmos, redness, and eyelid retraction.
Methods
Patients newly diagnosed with GO were analyzed. Genomic DNA was extracted from their blood, and SNPs were amplified using PCR and sequenced. Candidate SNPs, selected based on prior research, were analyzed using chi-square tests and genetic models to assess genotype and allele frequency differences related to clinical manifestations.
Results
CD28 SNPs rs3181096 (C vs. T: p=0.001) and rs3181098 (G vs. A: p=0.002) were found to show protective effects against eyelid inflammation, while the A-allele of rs200353921(p=0.005) increased the risk of eyelid inflammation. PDCD1 SNPs rs36084323 (C vs. T: p=0.004) and rs41386349 (G vs. A: p=0.005) were linked to diplopia and eyelid inflammation, respectively.
Conclusion
The results emphasize the involvement of these genes in immune regulation and orbital inflammatory processes in Graves’ ophthalmopathy, with implications for the development of predictive tools and targeted interventions.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Ding-Ping | Chen | Chang Gung Memorial Hospital |
| Chia-Rui | Shen | Chang Gung Memorial Hospital |
| Wei-Tzu | Lin | Chang Gung Memorial Hospital |
