title: Variations in the myocilin gene in patients with open-angle glaucoma.
abstract: OBJECTIVE
  To determine the prevalence and associated phenotype of myocilin (MYOC) coding sequence variations and a specific promoter polymorphism (MYOC.mt1) in patients with glaucoma and glaucoma suspects.
  
  
  METHODS
  A consecutive, unselected series of 779 patients (652 with open-angle glaucoma and 127 glaucoma suspects) were recruited from a university medical center and clinically characterized. The coding sequences of the MYOC gene and the MYOC.mt1 locus in the promoter region were screened for sequence variations. We determined the prevalence of MYOC coding sequence mutations and the MYOC.mt1 promoter polymorphism. We also compared the clinical features of individuals with and without mutations and the MYOC.mt1 promoter polymorphism.
  
  
  RESULTS
  Plausible disease-causing sequence variations (DCVs) in the MYOC gene were found in 3.0% of the entire group. Such variations were found in patients with most forms of open-angle glaucoma studied. Patients with primary open-angle glaucoma (POAG) who harbored coding sequence DCVs were clinically similar to patients without them. Patients who harbored the rarer allele of the MYOC.mt1 promoter polymorphism were no different in any measure of disease severity from those who harbored the more common allele.
  
  
  CONCLUSIONS
  MYOC DCVs were found in approximately 3% of patients with glaucoma and glaucoma suspects. The 2 alleles of the MYOC.mt1 promoter polymorphism were equally distributed among patients with POAG and healthy control subjects. Patients with POAG who harbored the rarer allele of the MYOC.mt1 promoter polymorphism were no different from those with the more common variant in any measure of disease severity.
  
  
  CONCLUSIONS
  Testing for the MYOC.mt1 promoter polymorphism appears to be of no value in the evaluation of patients with glaucoma.
authors.affiliation: Department of Ophthalmology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA. edwin-stone@uiowa.edu
authors.forename: Wallace L M
authors.initials: WL
authors.lastname: Alward
authors.forename: Young H
authors.initials: YH
authors.lastname: Kwon
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Khanna
authors.forename: A Tim
authors.initials: AT
authors.lastname: Johnson
authors.forename: Sohan S
authors.initials: SS
authors.lastname: Hayreh
authors.forename: M Bridget
authors.initials: MB
authors.lastname: Zimmerman
authors.forename: Joanna
authors.initials: J
authors.lastname: Narkiewicz
authors.forename: Jeaneen L
authors.initials: JL
authors.lastname: Andorf
authors.forename: Paula A
authors.initials: PA
authors.lastname: Moore
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D017422:Sequence Analysis, DNA; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin