Further evaluation of differential expression of keratoconus candidate genes in human corneas.
Justyna A KarolakBarbara Ginter-MatuszewskaKatarzyna TomelaMichal KabzaDorota M Nowak-MalczewskaMalgorzata RydzaniczPiotr PolakowskiJacek P SzaflikMarzena GajeckaPublished in: PeerJ (2020)
A strong correlation between RT-qPCR and earlier RNA-Seq data confirms the possible involvement of genes from collagen synthesis and the TGF-β, Hippo, and Wnt signaling pathways in KTCN etiology. Our data also revealed altered expression of several genes, such as LOX, SPARC, and ZNF469, in which single nucleotide variants have been frequently identified in KTCN. These findings further highlight the heterogeneous nature of KTCN.