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Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma
Citation
Awadalla, MS and Fingert, JH and Roos, BE and Chen, S and Holmes, R and Graham, SL and Chehade, M and Galanopolous, A and Ridge, B and Souzeau, E and Zhou, T and Siggs, OM and Hewitt, AW and Mackey, DA and Burdon, KP and Craig, JE, Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma, American Journal of Ophthalmology, 159, (1) pp. 124-130. ISSN 0002-9394 (2015) [Refereed Article]
Copyright Statement
Copyright 2015 BY ELSEVIER INC.
DOI: doi:10.1016/j.ajo.2014.09.044
Abstract
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.
Design: A retrospective cohort study.
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.
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.
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.
Item Details
Item Type: | Refereed Article |
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Keywords: | glaucoma, genetics, CNV |
Research Division: | Biomedical and Clinical Sciences |
Research Group: | Ophthalmology and optometry |
Research Field: | Ophthalmology |
Objective Division: | Health |
Objective Group: | Clinical health |
Objective Field: | Clinical health not elsewhere classified |
UTAS Author: | Hewitt, AW (Professor Alex Hewitt) |
UTAS Author: | Burdon, KP (Professor Kathryn Burdon) |
ID Code: | 98082 |
Year Published: | 2015 |
Web of Science® Times Cited: | 51 |
Deposited By: | Menzies Institute for Medical Research |
Deposited On: | 2015-02-02 |
Last Modified: | 2017-11-06 |
Downloads: | 0 |
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