Table 3. Summary of novel candidate genes.
Candidate genes for eight novel loci identified in the multi-ancestry meta-analysis for FECD.
Novel candidate gene |
Putative function |
---|---|
SSBP3 | Likely binds to polypyrimidine promoter of COL1A2, regulating transcription. |
THSD7A | Regulation of endothelial cell migration and adhesion via binding of integrin αvβ3. |
LAMB1 | Beta-1 subunit of laminin-511, component of basal lamina. |
CDC151; PIDD1 | Global regulator of endothelial cell-cell and cell-matrix adhesion; may have a role in regulating corneal endothelial cell death via apoptosis. |
RORA | Member of retinoic acid-related orphan receptors (RORs) family, which play a role in embryonic development of the eye. |
HS3ST3B1 | Regulates heparan sulfate, which may have a role in corneal homeostasis. |
LAMA5 | Alpha-5 subunit of laminin-511, component of basal lamina. |
COL18A1 | Collagen type XVIII subunit, is cleaved to form endothelial cell regulator endostatin. |