Abstract:AIM:To identify key oxidative stress-related genes and pathways in the medial rectus(MR)muscle of patients with concomitant exotropia(XT).
METHODS:RNA sequencing was performed on MR muscle specimens obtained from XT patients and healthy controls.Comprehensive bioinformatics, including the identification of oxidative stress-related differentially expressed genes(OSRDEGs), functional enrichment analysis, protein-protein interaction(PPI)network construction, and receiver operating characteristic(ROC)curve were used to analyze OSRDEGs and signaling pathways. Key hub genes were validated using reverse transcription-quantitative polymerase chain reaction(RT-qPCR).
RESULTS:A total of 24 XT patients \〖6 males, 18 females, age 29.5(21.5, 42.5)y\〗 and 14 healthy controls \〖4 males, 10 females, age 42.0(28.0, 55.0)y\〗 were enrolled.A total of 319 OSRDEGs were identified. Functional enrichment analysis revealed significant associations with the reactive oxygen species metabolic process, response to oxidative stress, and the p53 signaling pathway. PPI network analysis identified five hub genes(IL6, TNF, CD4, PTPRC,and ITGAM).ROC curve analysis demonstrated high diagnostic accuracy of CD4, PTPRC, and ITGAM(AUC>0.9)in distinguishing XT patients from healthy controls, while IL6 and TNF showed moderate diagnostic accuracy(0.7TNF,CD4, and IL6(all P<0.05).CONCLUSION:Oxidative stress may play a vital role in the pathogenesis of XT. The identified hub genes provide new directions for investigating the molecular mechanisms underlying XT.
