Identification and functional analysis of the risk pathways in glaucoma

Objective Glaucoma is one of the common complex eye diseases which causes serious damage to the eye.Glaucoma is clinically characterized by intraocular pressure,optic fundus changes,and visual defect and impairment.In this study,we used a bioinformatic approach to identify the glaucoma-related risk pathways,and then to analyze the functions of key driver genes of the disease,using glaucoma-related gene expression profiles from Gene Expression Omnibus (GEO).We studied the pathogenesis of glaucoma at the molecular level to further improve the accuracy of clinical diagnosis.Methods We downloaded gene expression dataset GSE2378 from the Gene Expression Omnibus (GEO).The data set contains 7 disease and 6 normal sample.We then used bioinformatic strategies,such as folding rate,gene set enrichment analysis and identification of risk pathways to explore the molecular and cellular pathogenesis of glaucoma.Results Risk genes (FGF7,ADH1 A,MMP1 and GPR116),functional moduls (response to wounding,inflammatory response,vasculature development,enzyme linked receptor protein signaling pathway,cell adhesion,biological adhesion,blood vessel development),regulation of calcium-mediated signaling) and risk pathway (Complement and coagulation cascades,Glycolysis / Gluconeogenesis,Tyrosine Tyrosine metabolism,Histidine metabolism,Regulation of actin cytoskeleton) associated with Glaucoma are statistics significant with P ＜0.05 (P =0.004,0.001,0.045,0.022).Conclusion Identifying risk genes,functional moduls and risk pathway has important clinical value in diagnosis,differential diagnosis and management of glaucoma. Key words: Glaucoma; Risk pathways; Functional enrichment analysis; Identify