title: Screening of candidate genes for primary open angle glaucoma.
abstract: OBJECTIVE
  Primary open-angle glaucoma (POAG) is one of the leading causes of irreversible blindness in the world. To make progress in understanding POAG, it is necessary to identify more POAG-causing genes.
  
  
  METHODS
  Using haplotype analysis, we found that mutational region is located on chromosome 2 in two families. Furthermore, we screened 11 candidate genes on chromosome 2 by protein-protein interaction (PPI) analysis, including mutS homolog 6 (MSH6), mutS homolog 2 (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 to trabecular meshwork changes and progressive loss of retinal ganglion cells in POAG patients.
  
  
  RESULTS
  According to our study, FBXO11 and VRK2 may interact with tumor protein p53 to regulate mitochondrial membrane permeability, mitochondrial membrane organization, and apoptosis. MSH2 is responsible for repairing DNA mismatches and RTN4 is for neuronal regeneration. Therefore, they are supposed to play a negative role in cellular process in POAG. CALM2 may be involved in retinal ganglion cell death and oxidative damage to cell communication.
  
  
  CONCLUSIONS
  The results demonstrate that the genes above may be associated with pathogenesis of POAG.
authors.affiliation: Department of Ophthalmology, Daping Hospital, Research Institute of Surgery, Third Military Medical University of PLA, Chongqing, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.forename: Lin
authors.initials: L
authors.lastname: Xie
authors.forename: Jian
authors.initials: J
authors.lastname: Ye
authors.forename: Yuewuyang
authors.initials: Y
authors.lastname: Liu
authors.forename: Xiangge
authors.initials: X
authors.lastname: He
mesh_terms: D002681:China; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing; D023281:Genomics; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D025941:Protein Interaction Mapping; D012165:Retinal Ganglion Cells / Q000378:metabolism / Q000473:pathology; D014129:Trabecular Meshwork / Q000378:metabolism / Q000473:pathology
chemical_list: D005136:Eye Proteins; D005819:Genetic Markers