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pmid:37968618
Identification and validation of autophagy-related genes in primary open-angle glaucoma.
Wanjing Xu · Yuhao Sun · Shuang Zhao · Jun Zhao · Juanmei Zhang
BMC medical genomics · 2023 doi:10.1186/s12920-023-01722-5
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Experiment
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Complete file
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Autophagy may affect the occurrence and development of POAG, while the specific mechanism and target need to be further explored.\nMETHODS: The GSE27276 dataset from the Gene Expression Omnibus (GEO) database and the autophagy gene set from the GeneCards database were selected to screen differentially expressed autophagy-related genes (DEARGs) of POAG. Hub DEARGs were selected by constructing protein-protein interaction (PPI) networks and utilizing GSE138125 dataset. Subsequently, immune cell infiltration analysis, genome-wide association study (GWAS) analysis, gene set enrichment analysis (GSEA) and other analyses were performed on the hub genes. Eventually, animal experiments were performed to verify the mRNA levels of the hub genes by quantitative real time polymerase chain reaction (qRT-PCR).\nRESULTS: A total of 67 DEARGs and 2 hub DEARGs, HSPA8 and RPL15, were selected. The hub genes were closely related to the level of immune cell infiltration. GWAS analysis confirmed that the causative regions of the 2 hub genes in glaucoma were on chromosome 11 and chromosome 3, respectively. GSEA illustrated that pathways enriched for highly expressed HSPA8 and RPL15 contained immunity, autophagy, gene expression and energy metabolism-related pathways. qRT-PCR confirmed that the expression of Hspa8 and Rpl15 in the rat POAG model was consistent with the results of bioinformatics analysis.\nCONCLUSIONS: This study indicated that HSPA8 and RPL15 may affect the progression of POAG by regulating autophagy and provided new ideas for the pathogenesis and treatment of POAG.", "claims": [{"id": "claim-method", "statement": "The limma package was used to identify DEGs, the normalizeBetweenArrays function was used to correct batch effects between samples, the lmFit function was used to fit the linear model, and the eBayes function was used to calculate the P-values.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37968618", "locator": "sections[3] \"Gene expression data acquisition\" paragraph 2", "quote": "The limma package was used to identify DEGs, the normalizeBetweenArrays function was used to correct batch effects between samples, the lmFit function was used to fit the linear model, and the eBayes function was used to calculate the P-values."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The datasets used and/or analysed during the current study are available from the Gene Expression Omnibus database (GEO: GSE27276 and GSE138125) https://www.ncbi.nlm.nih.gov/geo/, the GeneCards database https://www.genecards.org/, the Metascape database https://metascape.org/, and the Gene Atlas database http://geneatlas.roslin.ed.ac.uk/.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:37968618", "locator": "sections[33] \"notes\" paragraph 1", "quote": "The datasets used and/or analysed during the current study are available from the Gene Expression Omnibus database (GEO: GSE27276 and GSE138125) https://www.ncbi.nlm.nih.gov/geo/, the GeneCards database https://www.genecards.org/, the Metascape database https://metascape.org/, and the Gene Atlas database http://geneatlas.roslin.ed.ac.uk/."}], "state": "complete"}, {"id": "claim-target-result", "statement": "A total of 67 DEARGs and 2 hub DEARGs, HSPA8 and RPL15, were selected.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:37968618", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "A total of 67 DEARGs and 2 hub DEARGs, HSPA8 and RPL15, were selected."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "A total of 67 DEARGs and 2 hub DEARGs, HSPA8 and RPL15, were selected.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:37968618"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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