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TBK1 gene duplication and normal-tension glaucoma

TBK1 gene duplication and normal-tension glaucoma
TBK1 gene duplication and normal-tension glaucoma

Importance: Normal-tension glaucoma (NTG) is a common cause of vision loss.

Objective: To investigate the role of TANK binding kinase 1 (TBK1) gene duplications in NTG to gain insights into the causes of glaucoma that occurs at low intraocular pressure (IOP).

Design, Setting, and Participants: In this multicenter case-control study, we investigated patients who met the criteria for NTG, including glaucomatous optic neuropathy, visual field defects, and maximum recorded untreated IOP of 21 mm Hg or less, and matched controls. Participants (N?=?755) were recruited from Southampton, United Kingdom (180 patients and 178 controls), Rochester, Minnesota (65 patients and 12 controls), New York, New York (96 patients and 16 controls), and Iowa City, Iowa (208 controls).

Main Outcomes and Measures: Detection of TBK1 gene duplications and comparison of the extent of the identified DNA that is duplicated with prior TBK1 copy number variations associated with NTG.

Results: A TBK1 gene duplication was detected in 1 of 96 patients (1.0%) from New York and none of the controls. Analysis of duplication borders with comparative genome hybridization demonstrated that this patient has a novel duplication that has not been previously reported. No gene duplications were detected in any of the other cohorts of patients or controls.

Conclusions and Relevance: Duplication of the TBK1 gene is a rare cause of NTG. The identification of another case of NTG attributed to TBK1 gene duplication strengthens the case that this mutation causes glaucoma.
2168-6165
544-548
Ritch, Robert
a67c293c-7843-4c68-8cf3-fcadf941a79e
Darbro, Ben
7218c0ff-cf00-4fe1-8d93-d9af892016a0
Menon, Geeta
941f77e0-5d93-49a8-ac38-a250c4bdbc06
Khanna, Cheryl L.
eb8163ed-80e2-4e3c-a76e-ac2bd7a2d222
Solivan-Timpe, Frances
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Roos, Ben R.
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Sarfarzi, Mansoor
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Kawase, Kazuhide
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Yamamoto, Tetsuya
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Robin, Alan L.
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Lotery, Andrew J.
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Fingert, John H.
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Ritch, Robert
a67c293c-7843-4c68-8cf3-fcadf941a79e
Darbro, Ben
7218c0ff-cf00-4fe1-8d93-d9af892016a0
Menon, Geeta
941f77e0-5d93-49a8-ac38-a250c4bdbc06
Khanna, Cheryl L.
eb8163ed-80e2-4e3c-a76e-ac2bd7a2d222
Solivan-Timpe, Frances
9c741d49-4f76-4d0a-82ee-9e1e605fd463
Roos, Ben R.
59ddb22c-8c03-4c94-98de-ebe63567448d
Sarfarzi, Mansoor
07fbce54-e5c8-495f-9a21-919f294365a4
Kawase, Kazuhide
9c9b3d76-c81d-4a2c-8fcc-aa4004aaffa0
Yamamoto, Tetsuya
e5fd546d-2f2b-4c58-8ab2-c1f72f8d57aa
Robin, Alan L.
7bc4affa-8c89-4fa3-89d3-744bf51371c0
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Fingert, John H.
826bff16-19ff-4c19-813c-2c57434be29e

Ritch, Robert, Darbro, Ben, Menon, Geeta, Khanna, Cheryl L., Solivan-Timpe, Frances, Roos, Ben R., Sarfarzi, Mansoor, Kawase, Kazuhide, Yamamoto, Tetsuya, Robin, Alan L., Lotery, Andrew J. and Fingert, John H. (2014) TBK1 gene duplication and normal-tension glaucoma. JAMA Ophthalmology, 132 (5), 544-548. (doi:10.1001/jamaophthalmol.2014.104). (PMID:24699864)

Record type: Article

Abstract


Importance: Normal-tension glaucoma (NTG) is a common cause of vision loss.

Objective: To investigate the role of TANK binding kinase 1 (TBK1) gene duplications in NTG to gain insights into the causes of glaucoma that occurs at low intraocular pressure (IOP).

Design, Setting, and Participants: In this multicenter case-control study, we investigated patients who met the criteria for NTG, including glaucomatous optic neuropathy, visual field defects, and maximum recorded untreated IOP of 21 mm Hg or less, and matched controls. Participants (N?=?755) were recruited from Southampton, United Kingdom (180 patients and 178 controls), Rochester, Minnesota (65 patients and 12 controls), New York, New York (96 patients and 16 controls), and Iowa City, Iowa (208 controls).

Main Outcomes and Measures: Detection of TBK1 gene duplications and comparison of the extent of the identified DNA that is duplicated with prior TBK1 copy number variations associated with NTG.

Results: A TBK1 gene duplication was detected in 1 of 96 patients (1.0%) from New York and none of the controls. Analysis of duplication borders with comparative genome hybridization demonstrated that this patient has a novel duplication that has not been previously reported. No gene duplications were detected in any of the other cohorts of patients or controls.

Conclusions and Relevance: Duplication of the TBK1 gene is a rare cause of NTG. The identification of another case of NTG attributed to TBK1 gene duplication strengthens the case that this mutation causes glaucoma.

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More information

Published date: May 2014
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 367804
URI: http://eprints.soton.ac.uk/id/eprint/367804
ISSN: 2168-6165
PURE UUID: 80cd1458-2f4f-4354-aeaf-c9f07d639d5a
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 18 Aug 2014 11:02
Last modified: 15 Mar 2024 03:16

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Contributors

Author: Robert Ritch
Author: Ben Darbro
Author: Geeta Menon
Author: Cheryl L. Khanna
Author: Frances Solivan-Timpe
Author: Ben R. Roos
Author: Mansoor Sarfarzi
Author: Kazuhide Kawase
Author: Tetsuya Yamamoto
Author: Alan L. Robin
Author: John H. Fingert

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