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

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Authors
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
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Issue Date
2010-10

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Citation
Nat. Genet. 2010, 42(10):906-9
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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http://dx.doi.org/10.1038/ng.661
ae974a485f413a2113503eed53cd6c53
10.1038/ng.661
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