ArticleAmerican journal of ophthalmology2015
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.
Article in American journal of ophthalmology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.Irish journal of medical science · 2022Pooled it
- Natural history of glaucoma suspects in a tertiary eye centre in Singapore.Eye (London, England) · 2026Article
- Neuroinflammation in glaucoma: a myriad of cellular pathways and players.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.Science China. Life sciences · 2026Article
- New Insights into the Role of Cellular Senescence and Its Therapeutic Implications in Ocular Diseases.Bioengineering (Basel, Switzerland) · 2025Review
- Tank-binding kinase 1 regulates inflammation and autophagy in glaucoma.Frontiers in neuroscience · 2025Review
- Phosphorylation of Optineurin by protein kinase D regulates Parkin-dependent mitophagy.iScience · 2024Article
- Migraine headache and other risk factors associated with glaucoma among the adult population living in Armenia: a case-control study.International ophthalmology · 2024Article
- Normal-Tension Glaucoma and Potential Clinical Links to Alzheimer's Disease.Journal of clinical medicine · 2024Review
- Glaucoma: from pathogenic mechanisms to retinal glial cell response to damage.Frontiers in cellular neuroscience · 2024Review
- Regulatory mechanisms of retinal ganglion cell death in normal tension glaucoma and potential therapies.Neural regeneration research · 2023Review
- Proteostasis in aging-associated ocular disease.Molecular aspects of medicine · 2022Review
- Review
- Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.BMC genomics · 2021Article
- Development of Primary Open Angle Glaucoma-Like Features in a Rhesus Macaque Colony From Southern China.Translational vision science & technology · 2021Article
- The Role of Autophagy in Eye Diseases.Life (Basel, Switzerland) · 2021Review
- Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.Journal of ophthalmology · 2021Review
- The role of TRPV4 channels in ocular function and pathologies.Experimental eye research · 2020Review
- The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
Abstract
purposeTo 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.
designA retrospective cohort study.
methodsDNA 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.
resultsFour 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.
conclusionWe 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.