| Primary open-angle glaucoma (POAG) is one of the leading causes of irreversible blindness in the world. Several studies have demonstrated that genetic facto rhas contributed to the pathogenesis of POAG. Therefore, using haplotype analysis, we find that mutational region is located on chromosome 2 intwo families. Further, we screen 11candidategenes on chromosome 2 by protein-protein interaction (PPI) analysis, including mutS homolog 6 (MSH6), mutS homolog 6(MSH2), v-rel reticuloendotheliosis viral oncogene homolog (REL),endothelial PAS domain protein 1(EPAS1), vaccinia related kinase 2(VRK2), F-box protein 11 (FBXO11), EGF containing fibulin-like extracellular matrix protein 1(EFEMP1), reticulon 4(RTN4), RAB1A, member RAS oncogene family (RAB1A), ARP2 actin-related protein 2 homolog(ACTR2), and calmodulin 2 (phosphorylase kinase, delta) (CALM2).These 11 genes are all predicted to be related with trabecular meshwork changes and progressive loss of retinal ganglion cells in POAG patients. Among them, FBXO11 and VRK2 may interact with p53 to regulate mitochondrial membrane permeability, mitochondrial membrane organization, and apoptosis, etc. MSH2 is responsible for repairing DNA mismatches and RTN4 is for neuronal regeneration. Therefore, they are proposed to play a negative role in cellular process in POAG.. Calmodulin 2 may be involved in retinal ganglion cell death and oxidative damage by cell communication. In conclusion, our data demonstrate that these genes may play a role in the etiology of a complex human disease with genetic contributions. |
