Table I.
Genetic loci and genes associated with the pathogenesis of PCG.
| Locus | Chromosomal region | Gene | Functions | Pathway implicated in PCG |
|---|---|---|---|---|
| GLC3A | 2p21-22 | CYP1B1 | Endogenous steroid metabolism | Retinoic acid-independent pathwaya |
| GLC3B | 1p36.2-36.1 | Unknown | Unknown | Unknown |
| GLC3C | 14q24.3 | LTBP2 | Extracellular matrix organization and formation | BMP/TGF-β pathwaya |
| Undesignated | lq24.3-q25.2 | MYOC | Trabecular meshwork inducible glucocorticoid response protein; compound variations with CYP1B1 | IL-1/NF-κB inflammatory stress responsea |
| Undesignated | 17q21.33 | COL1A1 | A core component of the extracellular matrix in ocular tissues, such as TM and SC | Unknown |
| Undesignated | 6p25.3 | FOXC1 | Development of anterior segment | Unknown |
| Undesignated | 8q23.1 | ANGTP1 | Effects on pro-angiogenic and vascular stabilizing through activation of TEK | ANGTP/TEK signaling pathway |
| Undesignated | 9p21.2 | TEK | Formation and homeostasis of SC |
aImplicated in glaucoma, but still unknown in PCG. PCG, primary congenital glaucoma; CYP1B1, cytochrome P450 family 1 subfamily B member 1; LTBP2, latent transforming growth factor β binding protein 2; MYOC, myocilin; COL1A1, collagen type I α1 chain; FOXC1, forkhead box C1; TEK, TEK receptor tyrosine kinase; ANGTP1, angiopoietin 1; BMP, bone morphogenetic protein; IL, interleukin; TGF, transforming growth factor; TM, trabecular meshwork; SC, Schlemm's canal.