DOI: 10.1038/ng.661

¤ OpenAccess: Green

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

Guðmar Þorleifsson,G. Bragi Walters,Alex W. Hewitt,Gísli Másson,Agnar Helgason,Andrew T. DeWan,Ásgeir Sigurðsson,Aðalbjörg Jónasdóttir,Sigurjon A. Gudjonsson,Kristinn P. Magnússon,Hreinn Stefánsson,Dennis Shun Chiu Lam,Pancy Oi Sin Tam,Gudrún J Gudmundsdóttir,Laura Southgate,Kathryn P. Burdon,María Soffía Gottfreðsdóttir,Micheala A. Aldred,Paul Mitchell,David St Clair,David Collier,Nelson L.S. Tang,Örn Sveinsson,Stuart MacGregor,Nicholas G. Martin,Angela J. Cree,Jane Gibson,A Macleod,Aby Jacob,Sarah Ennis,Terri L. Young,Juliana C.N. Chan,W S S Karwatowski,Christopher J. Hammond,K. Thordarson,Mingzhi Zhang,Claes Wadelius,Andrew Lotery,Richard C. Trembath,Chi Pui Pang,Josephine Hoh,Jamie E Craig,Augustine Kong,David A. Mackey,Friðbert Jónasson,Unnur Þorsteinsdóttir,Kāri Stefánsson

Biology

Open angle glaucoma

Genetics

2010

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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“Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma” is a paper by Guðmar Þorleifsson G. Bragi Walters Alex W. Hewitt Gísli Másson Agnar Helgason Andrew T. DeWan Ásgeir Sigurðsson Aðalbjörg Jónasdóttir Sigurjon A. Gudjonsson Kristinn P. Magnússon Hreinn Stefánsson Dennis Shun Chiu Lam Pancy Oi Sin Tam Gudrún J Gudmundsdóttir Laura Southgate Kathryn P. Burdon María Soffía Gottfreðsdóttir Micheala A. Aldred Paul Mitchell David St Clair David Collier Nelson L.S. Tang Örn Sveinsson Stuart MacGregor Nicholas G. Martin Angela J. Cree Jane Gibson A Macleod Aby Jacob Sarah Ennis Terri L. Young Juliana C.N. Chan W S S Karwatowski Christopher J. Hammond K. Thordarson Mingzhi Zhang Claes Wadelius Andrew Lotery Richard C. Trembath Chi Pui Pang Josephine Hoh Jamie E Craig Augustine Kong David A. Mackey Friðbert Jónasson Unnur Þorsteinsdóttir Kāri Stefánsson published in 2010. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.