title: Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).
abstract: OBJECTIVE
  To investigate the role of TANK-binding kinase 1 (TBK1) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas.
  
  
  METHODS
  In previous studies, we discovered that copy-number variations in theTBK1gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas-juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)-using a quantitative polymerase chain reaction assay.
  
  
  RESULTS
  NoTBK1gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. ATBK1gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients.
  
  
  CONCLUSIONS
  TBK1gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected aTBK1copy-number variation in a patient with exfoliation glaucoma, which is the first example of aTBK1mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated withTBK1copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Alan L
authors.initials: AL
authors.lastname: Robin
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Todd E
authors.initials: TE
authors.lastname: Scheetz
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Young H
authors.initials: YH
authors.lastname: Kwon
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Liebmann
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Robert
authors.initials: R
authors.lastname: Ritch
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa (Dr Fingert, Dr Scheetz, Dr Kwon, Dr Alward); the Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland (Dr Robin); the Department of Ophthalmology, University of Maryland, Baltimore, Maryland (Dr Robin); Columbia University Medical Center, New York, New York (Dr Liebmann); the Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, New York (Dr Ritch).
authors.forename: Wallace L M
authors.initials: WL
authors.lastname: Alward
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D018628:Gene Dosage; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D009885:Ophthalmology; D011446:Prospective Studies; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D012955:Societies, Medical; D014481:United States
chemical_list: D004247:DNA; D017346:Protein Serine-Threonine Kinases; C403191:TBK1 protein, human