title: Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
abstract: OBJECTIVE
  Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Africa).
  
  
  METHODS
  This is a case-control study of unrelated Ghanaian POAG cases and non-glaucomatous controls. Ascertainment criteria for POAG included the presence of glaucomatous optic nerve neuropathy, associated visual field loss, and elevated intraocular pressure (IOP) in both eyes, all in the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields, and IOP. All the coding exons of OPTN were polymerase chain reaction (PCR) amplified and sequenced in all 140 cases and 130 controls using an ABI 3730 DNA analyzer.
  
  
  RESULTS
  All the coding exons of OPTN were sequenced in 140 POAG patients and 130 controls. Several coding variants were identified including M98K, A134A, V147L, P292P, A301G, S321S, and E322K. Three coding variants (V147L, P292P, and A301G) have not been reported previously. There were no significant differences on the frequencies of all the identified variants between POAG cases and controls in this population.
  
  
  CONCLUSIONS
  This is the first comprehensive study of OPTN in a single West African population. Our results suggest that coding variants in OPTN may not contribute to the risk for POAG in persons of West African descent.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
authors.forename: Stephen
authors.initials: S
authors.lastname: Akafo
authors.forename: Cecile
authors.initials: C
authors.lastname: Santiago-Turla
authors.forename: Claudia S
authors.initials: CS
authors.lastname: Cohen
authors.forename: Karen R
authors.initials: KR
authors.lastname: Larocque-Abramson
authors.forename: Xuejun
authors.initials: X
authors.lastname: Qin
authors.forename: Leon W
authors.initials: LW
authors.lastname: Herndon
authors.forename: Pratap
authors.initials: P
authors.lastname: Challa
authors.forename: Silke
authors.initials: S
authors.lastname: Schmidt
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
mesh_terms: D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005869:Ghana; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics*; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA