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[Preprint]. 2023 May 3:rs.3.rs-2762003. [Version 1] doi: 10.21203/rs.3.rs-2762003/v1

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.