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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10?10). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR =
5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
1061-4036
906-909
Thorleifsson, Gudmar
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Walters, G. Bragi
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Helgason, Agnar
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Hammond, Christopher J.
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Thordarson, Kristjan
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Wadelius, Claes
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Mackey, David A.
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Stefansson, Kari
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Thorleifsson, Gudmar
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Masson, Gisli
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Helgason, Agnar
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Southgate, Laura
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Sveinsson, Orn
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Cree, Angela J
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Gibson, Jane
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MacLeod, Alex
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Ennis, Sarah
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Chan, Juliana C. N.
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Karwatowski, Wojciech S. S.
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Hammond, Christopher J.
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Thordarson, Kristjan
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Wadelius, Claes
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Lotery, Andrew J
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Trembath, Richard C.
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Pang, Chi Pui
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Hoh, Josephine
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Craig, Jamie E.
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Kong, Augustine
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Mackey, David A.
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Jonasson, Fridbert
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Thorsteinsdottir, Unnur
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Stefansson, Kari
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Thorleifsson, Gudmar, Walters, G. Bragi, Hewitt, Alex W., Masson, Gisli, Helgason, Agnar, DeWan, Andrew, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Gudjonsson, Sigurjon A., Magnusson, Kristinn P, Stefansson, Hreinn, Lam, Dennis S. C., Tam, Pancy O. S., Gudmundsdottir, Gudrun J., Southgate, Laura, Burdon, Kathryn P., Gottfredsdottir, Maria Soffia, Aldred, Micheala A, Mitchell, Paul, St Clair, David, Collier, David A., Tang, Nelson, Sveinsson, Orn, Macgregor, Stuart, Martin, Nicholas G., Cree, Angela J, Gibson, Jane, MacLeod, Alex, Jacob, Aby, Ennis, Sarah, Young, Terri L., Chan, Juliana C. N., Karwatowski, Wojciech S. S., Hammond, Christopher J., Thordarson, Kristjan, Zhang, Mingzhi, Wadelius, Claes, Lotery, Andrew J, Trembath, Richard C., Pang, Chi Pui, Hoh, Josephine, Craig, Jamie E., Kong, Augustine, Mackey, David A., Jonasson, Fridbert, Thorsteinsdottir, Unnur and Stefansson, Kari (2010) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nature Genetics, 42 (10), 906-909. (doi:10.1038/ng.661).

Record type: Article

Abstract

We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10?10). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR =
5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.

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More information

Accepted/In Press date: 12 September 2010
Published date: October 2010
Related URLs:

Identifiers

Local EPrints ID: 177987
URI: http://eprints.soton.ac.uk/id/eprint/177987
DOI: doi:10.1038/ng.661
ISSN: 1061-4036
PURE UUID: af8ac8cc-ba27-4c41-980c-6b98a7d81030
ORCID for Angela J Cree: ORCID iD orcid.org/0000-0002-1987-8900
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 22 Mar 2011 14:17
Last modified: 15 Mar 2024 03:02

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Contributors

Author: Gudmar Thorleifsson
Author: G. Bragi Walters
Author: Alex W. Hewitt
Author: Gisli Masson
Author: Agnar Helgason
Author: Andrew DeWan
Author: Asgeir Sigurdsson
Author: Adalbjorg Jonasdottir
Author: Sigurjon A. Gudjonsson
Author: Kristinn P Magnusson
Author: Hreinn Stefansson
Author: Dennis S. C. Lam
Author: Pancy O. S. Tam
Author: Gudrun J. Gudmundsdottir
Author: Laura Southgate
Author: Kathryn P. Burdon
Author: Maria Soffia Gottfredsdottir
Author: Micheala A Aldred
Author: Paul Mitchell
Author: David St Clair
Author: David A. Collier
Author: Nelson Tang
Author: Orn Sveinsson
Author: Stuart Macgregor
Author: Nicholas G. Martin
Author: Angela J Cree ORCID iD
Author: Jane Gibson ORCID iD
Author: Alex MacLeod
Author: Aby Jacob
Author: Sarah Ennis ORCID iD
Author: Terri L. Young
Author: Juliana C. N. Chan
Author: Wojciech S. S. Karwatowski
Author: Christopher J. Hammond
Author: Kristjan Thordarson
Author: Mingzhi Zhang
Author: Claes Wadelius
Author: Andrew J Lotery ORCID iD
Author: Richard C. Trembath
Author: Chi Pui Pang
Author: Josephine Hoh
Author: Jamie E. Craig
Author: Augustine Kong
Author: David A. Mackey
Author: Fridbert Jonasson
Author: Unnur Thorsteinsdottir
Author: Kari Stefansson

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