title: Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
abstract: OBJECTIVE
  Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population.
  
  
  METHODS
  We recruited 529 African American subjects with POAG and 270 African American control subjects in this study. A complete eye examination and blood collection was performed in all study subjects. Genomic DNA was extracted. The entire coding sequence of MYOC was amplified and sequenced using the Sanger method. Identified MYOC variants were compared with previously reported MYOC mutations.
  
  
  RESULTS
  We identified a total of 29 MYOC variants including six potential MYOC mutations. Two mutations (Thr209Asn and Leu215Gln) are novel and are found only in cases and no controls. We also identified four previously reported MYOC mutations in cases and no controls (Tyr453MetfsX11, Gln368X, Thr377Met, and Ser393Arg). The overall frequency of glaucoma-causing MYOC mutations in our African American population with POAG was 1.4%.
  
  
  CONCLUSIONS
  We identified two novel probable glaucoma-causing MYOC mutations (Thr209Asn and Leu215Gln). This study indicates that, despite the high prevalence of POAG, MYOC mutations are rare in the African American population.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Liu
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
authors.forename: Pratap
authors.initials: P
authors.lastname: Challa
authors.forename: Leon W
authors.initials: LW
authors.lastname: Herndon
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Girkin
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
mesh_terms: D000328:Adult; D001741:Black or African American; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000208:ethnology* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D059645:Mutation Rate; D016366:Open Reading Frames; D015995:Prevalence; D017422:Sequence Analysis, DNA; D014481:United States / Q000453:epidemiology; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin