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

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: 906-910. doi:10.1038/ng.661

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Author 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
Stefansson, Kari
Title Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
1061-4036
Publication date 2010-10-01
Year available 2010
Sub-type Article (original research)
DOI 10.1038/ng.661
Open Access Status Not yet assessed
Volume 42
Issue 10
Start page 906
End page 910
Total pages 5
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Language eng
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 x 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.
Formatted 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.

Keyword Nitric-oxide synthase
Trabecular meshwork
Caveolin
Eye
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 062346/Z/00/Z
1RO1EY018246
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
 
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Created: Wed, 30 Mar 2011, 01:23:02 EST by Debbie Banks on behalf of School of Medicine