Identification of immune-related biomarkers for glaucoma using gene expression profiling
作者全名：Wang, Dangdang; Pu, Yanyu; Tan, Sisi; Wang, Xiaochen; Zeng, Lihong; Lei, Junqin; Gao, Xi; Li, Hong
作者地址：[Wang, Dangdang; Pu, Yanyu; Tan, Sisi; Wang, Xiaochen; Zeng, Lihong; Lei, Junqin; Gao, Xi; Li, Hong] Chongqing Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Chongqing, Peoples R China; [Wang, Dangdang; Pu, Yanyu; Tan, Sisi; Wang, Xiaochen; Zeng, Lihong; Lei, Junqin; Gao, Xi; Li, Hong] Chongqing Eye Inst, Chongqing Branch Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Prevent & Treatment Major Blind, Chongqing, Peoples R China
通信作者：Li, H (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Dept Ophthalmol, Chongqing, Peoples R China.; Li, H (通讯作者)，Chongqing Eye Inst, Chongqing Branch Natl Clin Res Ctr Ocular Dis, Chongqing Key Lab Prevent & Treatment Major Blind, Chongqing, Peoples R China.
来源：FRONTIERS IN GENETICS
ESI学科分类：MOLECULAR BIOLOGY & GENETICS
WOS号：WOS:001210860000001
JCR分区：Q2
影响因子：2.8
年份：2024
卷号：15
期号：
开始页：
结束页：
文献类型：Article
关键词：biomarkers; immune-related genes; WGCNA; machine learning; immune cell infiltration; subclusters; glaucoma
摘要：Introduction: Glaucoma, a principal cause of irreversible vision loss, is characterized by intricate optic neuropathy involving significant immune mechanisms. This study seeks to elucidate the molecular and immune complexities of glaucoma, aiming to improve our understanding of its pathogenesis.Methods: Gene expression profiles from glaucoma patients were analyzed to identify immune-related differentially expressed genes (DEGs). Techniques used were weighted gene co-expression network analysis (WGCNA) for network building, machine learning algorithms for biomarker identification, establishment of subclusters related to immune reactions, and single-sample gene set enrichment analysis (ssGSEA) to explore hub genes' relationships with immune cell infiltration and immune pathway activation. Validation was performed using an NMDA-induced excitotoxicity model and RT-qPCR for hub gene expression measurement.Results: The study identified 409 DEGs differentiating healthy individuals from glaucoma patients, highlighting the immune response's significance in disease progression. Immune cell infiltration analysis revealed elevated levels of activated dendritic cells, natural killer cells, monocytes, and immature dendritic cells in glaucoma samples. Three hub genes, CD40LG, TEK, and MDK, were validated as potential diagnostic biomarkers for high-risk glaucoma patients, showing increased expression in the NMDA-induced excitotoxicity model.Discussion: The findings propose the three identified immune-related genes (IRGs) as novel diagnostic markers for glaucoma, offering new insights into the disease's pathogenesis and potential therapeutic targets. The strong correlation between these IRGs and immune responses underscores the intricate role of immunity in glaucoma, suggesting a shift in the approach to its diagnosis and treatment.
基金机构：National Natural Science Foundation of China [81974131]
基金资助正文：The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This study was funded by grant (81974131) from National Natural Science Foundation of China.
