MicroRNA Profiling in the Aqueous Humor of Keratoconus Eyes

PURPOSE: To identify differentially expressed (DE) microRNAs (miRNAs) in the aqueous humor (AH) of keratoconus (KC) eyes using next-generation sequencing and to explore whether DE miRNAs might play roles in KC pathophysiology. METHODS: The small RNAs in the AH of 15 KC eyes and 15 myopia eyes (the control group) were sequenced on an Illumina NovaSeq 6000 platform. Gene Oncology and Kyoto Encyclopedia of Genes and Genome enrichment analyses were performed. Receiver operating characteristic curves were used to identify potential KC biomarkers. RESULTS: We identified 204 miRNAs in the AH of the KC group and 200 in the AH of the control group. Fourteen miRNAs were differentially expressed between the two groups; four miRNAs were upregulated and 10 downregulated in KC AH. The possible pathways regulated by the DE miRNAs included antigen processing and presentation, endocytosis, mismatch repair, and Hippo signaling. The AH concentrations of miR-222-3p, miR-363-3p, and miR-423-5p exhibited areas under the curves of 1. CONCLUSIONS: We profiled the DE miRNAs of the AH of KC eyes. These miRNAs may be associated with KC pathogenesis and could serve as KC biomarkers. TRANSLATIONAL RELEVANCE: Data on aberrantly expressed miRNAs in KC combined with bioinformatics analyses suggest possible roles for specific miRNAs. The DE miRNAs may serve as diagnostic KC biomarkers.