title: Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
abstract: BACKGROUND
  Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations.
  
  
  METHODS
  A meta-analysis of 32 published genetic association case-control studies, which examined the relation between POAG and the R46X, R76K, Y347Y, T353I, and Q368X polymorphisms of the myocilin gene, was carried out.
  
  
  RESULTS
  In meta-analysis, significant associations were observed between POAG risk and two myocilin polymorphisms with summarized odds ratio of 4.68 (95%CI, 2.02-10.85) for Q368X and 2.17 (95% CI, 1.32-3.57) for T353I. Both Q368X and T353I were significantly associated with high-tension glaucoma, with summarized odds ratio of 4.26 (1.69, 10.73) and 2.26 (1.37-3.72). In Westerners, significant association was observed for Q368X mutation (odds ratio, 5.17; 95% CI, 2.16-12.40). However, in Asians it was for T353I (odds ratio, 2.17; 95% CI, 1.32-3.57).
  
  
  CONCLUSIONS
  There is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.
authors.affiliation: Department of Ophthalmology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, China.
authors.forename: Jin-Wei
authors.initials: JW
authors.lastname: Cheng
authors.forename: Shi-Wei
authors.initials: SW
authors.lastname: Cheng
authors.forename: Xiao-Ye
authors.initials: XY
authors.lastname: Ma
authors.forename: Ji-Ping
authors.initials: JP
authors.lastname: Cai
authors.forename: You
authors.initials: Y
authors.lastname: Li
authors.forename: Guo-Cai
authors.initials: GC
authors.lastname: Lu
authors.forename: Rui-Li
authors.initials: RL
authors.lastname: Wei
mesh_terms: D019943:Amino Acid Substitution; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin