20.500.12556/DiRROS-27847 How “omics” studies contribute to a better understanding of Fuchs’ endothelial corneal dystrophy Fuchs’ endothelial corneal dystrophy (FECD) is a progressive eye disease characterized by accelerated loss of endothelial cells and the development of focal excrescence (guttae) on Descemet’s membrane, resulting in cornea opacity and vision deterioration. The development of FECD is assumed to be due to the interplay between genetic and environmental factor risks, causing abnormal extracellular-matrix organization, increased oxidative stress, apoptosis and unfolded protein response. However, the molecular knowledge of FECD is limited. The development of genome-wide platforms and bioinformatics approaches has enabled us to identify numerous genetic loci that are associated with FECD. In this review, we gathered genome-wide studies (n = 31) and sorted them according to genomics (n = 9), epigenomics (n = 3), transcriptomics (n = 15), proteomics (n = 3) and metabolomics (n = 1) levels to characterize progress in understanding FECD. We also extracted validated differentially expressed/spliced genes and proteins identified through comparisons of FECD case and control groups. In addition, highlighted loci from each omics layer were combined according to a comparison with similar study groups from original studies for downstream gene-set enrichment analysis, which provided the most significant biological pathways related to extracellular-matrix organization. In the future, multiomics study approaches are needed to increase the sample size and statistical power to identify strong candidate genes for functional studies on animal models and cell lines for better understanding FECD. Fuchs’ endothelial corneal dystrophy FECD omics study genomics true false true Angleški jezik Ni določen Neznano 2026-02-26 11:35:04 2026-02-26 11:35:05 2026-02-27 03:58:36 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis z dne 10. 3. 2025; 31 str. iss. 3, [article no.] 135 Vol. 47 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 61 1467-3045 10.3390/cimb47030135 228415747 RAZ_Prasnikar_Erika_2025.pdf RAZ_Prasnikar_Erika_2025.pdf 1 BD5AAFF1D4B3E0ECC3D5684EE234770F 0a206bd5517cb67ec092824c4953258728e48e34f03b804a49770d2857d7bb70 f17f6d6b-12fe-11f1-9cb0-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=40977 https://www.mdpi.com/1467-3045/47/3/135 1 d0aedf5c-12fe-11f1-9cb0-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=40976 Univerzitetni klinični center Ljubljana 0 0 0