Genetic risk factors of endocrine ophthalmopathy and their clinical associations

Abstract

Purpose: This study aims to evaluate TERC and TERT gene polymorphisms and their relationship to risk factors, laboratory findings, and imaging in endocrine ophthalmopathy (EO) patients. Methods: This cross-sectional study involved EO patients and healthy volunteers who were patients of the Eye Disease Clinic of the Lithuanian University of Health Sciences. A complete ophthalmological examination was performed on all participants. The results of imaging and laboratory tests were taken from the medical records. DNA was extracted from peripheral blood leukocytes, and real-time polymerase chain reaction (RT-PCR) was used to analyze the TERC rs35073794 and rs12696304, and TERT rs2736098 gene polymorphisms. Data analysis was performed using IBM SPSS Statistics 27 software. Results: According to the RT-PCR results, the TERC rs35073794 GG genotype polymorphism is significantly associated with EO (p=0.001). In addition, the TERC rs12696304 polymorphism CC genotype correlates with extraocular muscle changes observed in imaging studies (p=0.017). In contrast, the TERT rs2736098 polymorphism CC genotype is associated with increased anti-TSHR levels (p=0.047), and the CT genotype is associated with smoking (p=0.035). Conclusions: This study provides new evidence that the TERC rs35073794 polymorphism is related to EO, the TERC rs12696304 polymorphism correlates with extraocular muscle changes, and the TERT rs2736098 polymorphism is associated with increased anti-TSHR levels and smoking. These results suggest that TERC and TERT gene polymorphisms have the potential to be used as prognostic factors in clinical practice. However, larger multicenter studies still need to validate these results before they can be introduced into clinical practice.