Journal article
Tank-Binding Kinase 1 ( TBK1 ) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis)
Transactions of the American Ophthalmological Society, Vol.114, pp.T6-T6-11
08/2016
PMCID: PMC5113957
PMID: 27881886
Abstract
To investigate the role of TANK-binding kinase 1 ( ) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. In previous studies, we discovered that copy-number variations in the gene 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. No gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a copy-number variation in a patient with exfoliation glaucoma, which is the first example of a mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.
Details
- Title: Subtitle
- Tank-Binding Kinase 1 ( TBK1 ) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis)
- Creators
- John H Fingert - University of Iowa, Carver College of MedicineAlan L Robin - Johns Hopkins University School of MedicineTodd E Scheetz - University of Iowa, Carver College of MedicineYoung H Kwon - University of Iowa, Carver College of MedicineJeffrey M Liebmann - Columbia University Irving Medical CenterRobert Ritch - New York Eye and Ear InfirmaryWallace L M Alward - University of Iowa, Carver College of Medicine
- Resource Type
- Journal article
- Publication Details
- Transactions of the American Ophthalmological Society, Vol.114, pp.T6-T6-11
- Publisher
- United States
- PMID
- 27881886
- PMCID
- PMC5113957
- ISSN
- 1545-6110
- eISSN
- 1545-6110
- Grant note
- R01 EY023512 / NEI NIH HHS
- Language
- English
- Date published
- 08/2016
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980387402771
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