Article
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Nature genetics - 1 Oct 2010
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
Abstract excerpt
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)...
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