作者
Gudmar Thorleifsson, G Bragi Walters, Alex W Hewitt, Gisli Masson, Agnar Helgason, Andrew DeWan, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Sigurjon A Gudjonsson, Kristinn P Magnusson, Hreinn Stefansson, Dennis SC Lam, Pancy OS Tam, Gudrun J Gudmundsdottir, Laura Southgate, Kathryn P Burdon, Maria Soffia Gottfredsdottir, Micheala A Aldred, Paul Mitchell, David St Clair, David A Collier, Nelson Tang, Orn Sveinsson, Stuart Macgregor, Nicholas G Martin, Angela J Cree, Jane Gibson, Alex MacLeod, Aby Jacob, Sarah Ennis, Terri L Young, Juliana CN Chan, Wojciech SS Karwatowski, Christopher J Hammond, Kristjan Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew J Lotery, Richard C Trembath, Chi Pui Pang, Josephine Hoh, Jamie E Craig, Augustine Kong, David A Mackey, Fridbert Jonasson, Unnur Thorsteinsdottir, Kari Stefansson
发表日期
2010/10
期刊
Nature genetics
卷号
42
期号
10
页码范围
906-909
出版商
Nature Publishing Group US
简介
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.
引用总数
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G Thorleifsson, GB Walters, AW Hewitt, G Masson… - Nature genetics, 2010
