Table 1. Changes in the gene expression level determined using RT-qPCR in the KTCN corneas compared with the non-KTCN corneas.
| Gene | P value_adjusted | FC | log2 FC |
|---|---|---|---|
| (A) Genes selected based on RNA-seq study from top molecular pathways overrepresented across deregulated genes, encoding core elements of collagen synthesis and maturation pathways, the TGF-β, Hippo, and Wnt signaling pathways, as well as their potential regulators | |||
| ACTB | 0.133475711 | 0.644242264 | −0.6343248 |
| BMP1 | 0.113652146 | 0.525332459 | −0.9286974 |
| COL21A1 | 0.590726465 | 1.655146746 | 0.7269591 |
| COL5A2 | 0.128826872 | 0.183439285 | −2.4466255 |
| CTGF | 0.113652146 | 0.055297401 | −4.1766445 |
| DNMT1 | 0.360409941 | 0.710043749 | −0.4940202 |
| DNMT3A | 0.214127903 | 1.303679974 | 0.3825898 |
| DNMT3B | 0.219396173 | 0.543577449 | −0.8794425 |
| EZH2 | 0.184023747 | 0.741651443 | −0.4311868 |
| LOX | 0.2178701 | 0.261069481 | −1.9374943 |
| SMAD7 | 0.076671938 | 0.217447449 | −2.2012613 |
| TEAD2 | 0.113652146 | 0.262175317 | −1.9313962 |
| TEAD3 | 0.321839445 | 1.255782411 | 0.3285865 |
| TEAD4 | 0.1055257 | 0.357861338 | −1.4825274 |
| TGFB1 | 0.113652146 | 0.443800498 | −1.1720168 |
| TGFB2 | 0.405724701 | 0.571357569 | −0.8075342 |
| TGFB3 | 0.076671938 | 0.165798806 | −2.5924945 |
| TGFBR1 | 0.199938575 | 0.760414605 | −0.3951419 |
| TGFBR2 | 0.113652146 | 0.480308326 | −1.0579673 |
| WNT5A | 0.710742768 | 0.904652905 | −0.1445637 |
| YY1 | 0.751277265 | 1.092918686 | 0.1281861 |
| YY1AP1 | 0.367206418 | 1.193550658 | 0.2552598 |
| ZFYVE9 | 0.314142017 | 1.400497193 | 0.4859391 |
| (B) Genes previously reported as involved in KTCN based on their function, detection of putative variants within the gene, localization within the linkage region, or localization in proximity to variants associated with KTCN | |||
| CTNNB1 | 0.994110913 | 1.000820444 | 0.0011832 |
| DOCK9 | 0.425606848 | 1.313649696 | 0.3935806 |
| FGF9 | 0.556166983 | 1.531641011 | 0.6150782 |
| HGF | 0.826503411 | 0.870795372 | −0.1995944 |
| IL1RN | 0.271724961 | 0.791829931 | −0.3367375 |
| PROB1 | 0.271724961 | 0.628154772 | −0.6708080 |
| SKP1 | 0.077097944 | 1.632464428 | 0.7070516 |
| SLC4A11 | 0.133475711 | 2.408981021 | 1.2684230 |
| SPARC | 0.128826872 | 0.226367696 | −2.1432600 |
| TGFBI | 0.113652146 | 2.488055868 | 1.3150189 |
| WDR33 | 0.292948374 | 1.306800874 | 0.3860393 |
| ZEB1 | 0.321839445 | 0.469715758 | −1.0901401 |
| ZNF469 | 0.076671938 | 0.091553859 | −3.4492355 |