Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 159, Issue 1, Pages 124-130Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2014.09.044
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Funding
- AllerGen (Sydney, Australia)
- Biogen (Sydney, Australia)
- Novartis (Sydney, Australia)
- Alcon (Sydney, Australia)
- Ophthalmic Research Institute of Australia
- Channel Seven Foundation
- National Health and Medical Research Council
- National Health and Medical Research Council (NHMRC) of Australia Research Fellowship
- Australian National Health and Medical Research Council Centres of Research Excellence [1023911]
- National Eye Institute (NEI) [EY018825, EY023512]
- Polakoff Foundation
- Robert and Sharon Wilson
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center dot PURPOSE: To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. center dot DESIGN: A retrospective cohort study. center dot METHODS: DNA samples from patients with normal-tension glaucoma and high-tension glaucoma and unaffected controls were screened for TBK1 copy number variations using real-time quantitative polymerase chain reaction. Samples with additional copies of the TBK1 gene were further tested using custom comparative genomic hybridization arrays. center dot RESULTS: Four out of 334 normal-tension glaucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase chain reaction. One extra dose of the TBK1 gene (duplication) was detected in 3 normal-tension glaucoma patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension glaucoma patient. The results were further confirmed by custom comparative genomic hybridization arrays. Further, the TBK1 copy number variation segregated with normal-tension glaucoma in the family members of the probands, showing an autosomal dominant pattern of inheritance. No TBK1 copy number variations were detected in 1045 Australian patients with high-tension glaucoma or in 254 unaffected controls. center dot CONCLUSION: We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication). These results confirm TBK1 to be an important cause of normal-tension glaucoma, but do not suggest common involvement in high-tension glaucoma. (C) 2015 by Elsevier Inc. All rights reserved.
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