Identification of novel therapeutic targets for Fuchs' endothelial corneal dystrophy based on gene bioinformatics analysis.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:35239706", "kind": "science-record", "revision": 6, "content_hash": "sha256:2218f7e17a1521c9565eda4b1bf2f37c919508ffe1d9aa15faed371fe60aea89", "created_at": "2026-11-01T17:37:00Z", "updated_at": "2026-11-01T22:48:35Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Identification of novel therapeutic targets for Fuchs' endothelial corneal dystrophy based on gene bioinformatics analysis.", "doi": "10.1371/journal.pone.0264018", "pmid": "35239706", "authors": ["Chao Liu", "Zi-Qing Gao", "Juan Li", "Qi Zhou"], "journal": "PloS one", "year": 2022, "abstract": "Fuchs' endothelial corneal dystrophy (FECD) is a disease where progressive visual impairment occurs by the thickening of the Descemet's membrane and the gradual degeneration and loss of corneal endothelial cells. This study aimed to investigate the key changes in gene expression associated with FECD and explore potential biomarkers and new therapeutic strategies for FECD. To explore the potential therapeutic targets of FECD, we downloaded the gene expression dataset GSE171830 from the Gene Expression Omnibus (GEO) database. A total of 303 differentially expressed genes (DEGs) were identified by the limma package. The enriched Gene Ontology (GO) annotations and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways of DEGs mostly included the extracellular matrix organization, collagen-containing extracellular matrix, and the structural constituents of the extracellular matrix. Fifteen hub genes from the most significant module were ascertained by Cytoscape. Both collagen-containing extracellular matrix and extracellular matrix hit to ANXA1, VCAN, GPC3, TNC, IGFBP7, MATN3, and SPARCL1 genes in the GO cellular components. Among these genes, the expression of SPARCL1 was down-regulated in the FECD samples, whereas the expression of GPC3, MATN3, IGFBP7, TNC, VCAN, and ANXA1 was up-regulated in the FECD samples. Gene set enrichment analysis (GSEA) plots showed that among the 20,937 genes, SPARCL1 played an important role in three pathways, cytokine-cytokine receptor interaction, the TGF-beta signaling pathway, and antigen processing and presentation. The top three pathways enriched by the GPC3, MATN3, IGFBP7, TNC, VCAN, and ANXA1 genes were those for cytokine-cytokine receptor interaction, TGF-beta signaling, and RIG-I-like receptor signaling. In conclusion, the DEGs identified here might assist clinicians in understanding the pathogenesis of FECD. Furthermore, these identified biomarkers might serve as potential therapeutic targets for the treatment of FECD.", "claims": [{"id": "claim-method", "statement": "We used the limma software package (Ritchie et al., 2015) to screen for differentially expressed genes between the FECD and unaffected groups, and further screened for differentially expressed genes by determining the fold change (log2 (fold change) > 2); the differences were considered to be significant at p-value < 0.01.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:35239706", "locator": "sections[5] \"2.3 | Identification of differentially expressed genes\" paragraph 2", "quote": "We used the limma software package (Ritchie et al., 2015) to screen for differentially expressed genes between the FECD and unaffected groups, and further screened for differentially expressed genes by determining the fold change (log2 (fold change) > 2); the differences were considered to be significant at p-value < 0.01."}], "state": "complete"}, {"id": "claim-data-access", "statement": "All relevant data are within the manuscript. Data is available through NCBI GEO using the accesion number GSE171830.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:35239706", "locator": "sections[16] \"Data Availability\" paragraph 2", "quote": "All relevant data are within the manuscript. 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