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


Thorleifsson, G and Walters, GB and Hewitt, AW and Masson, G and Helgason, A and DeWan, A and Sigurdsson, A and Jonasdottir, A and Gudjonsson, SA and Magnusson, KP and Stefansson, H and Lam, DSC and Tam, POS and Gudmundsdottir, GJ and Southgate, L and Burdon, KP and Gottfredsdottir, MS and Aldred, MA and Mitchell, P and St Clair, D and Collier, DA and Tang, N and Sveinsson, O and Macgregor, S and Martin, NG and Cree, AJ and Gibson, J and MacLeod, A and Jacob, A and Ennis, S and Young, TL and Chan, JCN and Karwatowski, WSS and Hammond, CJ and Thordarson, K and Zhang, M and Wadelius, C and Lotery, AJ and Trembath, RC and Pang, CP and Hoh, J and Craig, JE and Kong, A and Mackey, DA and Jonasson, F and Thorsteinsdottir, U and Stefansson, K, Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma, Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article]

DOI: doi:10.1038/ng.661


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 ĝ̂'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. © 2010 Nature America, Inc. All rights reserved.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Vision science
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:67784
Year Published:2010
Web of Science® Times Cited:292
Deposited By:Medicine
Deposited On:2011-03-08
Last Modified:2016-11-30

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