Table 3.
Expression and localization of the 8 putative keratoconus genes in the cornea
| Functional relevance to the cornea and keratoconus | Gene symbol | Localization of protein | Gene expression (Average Ct) | |||
|---|---|---|---|---|---|---|
| human cornea | HTcEp1 cultures | Stromal fibroblast | HTcEp1 cultures | Stromal fibroblast | ||
| Cytoskeletal protein trafficking; secretory vesicular | CENPF | All epithelial layers & stroma cytoplasmic and nuclear | Nuclear and cytoplasmic | Cytoplasmic and nuclear; basal body of primary cilia | 32 ± 0.213 | 26.6 ± 0.745 |
| EML6 | All epithelial layers & stroma | nd* | Cytoskeletal network | 32.5 ± 0.382 | 33.5 ± 0.616 | |
| NBEAL2 | All epithelial layers & stromal keratocyte cell bodies | Nuclear and cytoplasmic | Cytoplasmic punctate | 24.7 ± 0.416 | 30.4 ± 0.320 | |
| Barrier protection | HSPG2 | Not tested | Not tested | Not tested | 29.8 ± 0.056 | 27.5 ± 0.706 |
| Injury and Inflammation response | PIK3CG | All epithelial layer cytoplasmic with stronger basal cell staining | Cytoplasmic | nd | nd | nd |
| LRP1B | All epithelial layer cytoplasmic | Nuclear | Nuclear | 36.7 ± 0.738 | 34.8 ± 2.35 | |
| ITGAX | nd | nd | nd | 36.6 ± 0.429 | 35.3 ± 1.47 | |
| MRGPRD | nd | nd | nd | nd | nd | |
* nd: not detected.