Six genes, including COL4A4, COL3A1, COL1A2, ITGB5, COL5A2, and COL5A1, ECM-receptor interaction and focal adhesion pathway, are potentially involved in the pathogenesis of POAG via participating in pathways of ECM-receptor interaction and focal adhesion.
Selected ECM proteins were examined in human TM-3 cells stably expressing mutant myocilin and primary human TM cells (n = 4) as well as in the TM of Tg-MYOCY437H mice by real-time PCR, Western blotting, and immunostaining.
To assess for the first time the possible contribution of latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2), an extracellular matrix (ECM) protein that associates with fibrillin-1-containing microfibrils, to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) syndrome.
Functional annotation and over-representation analysis identified ECM genes as a statistically over-represented class of genes in POAG LC cells compared with normal LC cells.