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

• Published in: Nature Genetics
• Main 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
• Other Authors: deCODE genetics Inc, Reykjavik, Iceland. [e-mail]
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Pub. Co 2010
• Subjects: Adult; Aged; 80 and over; Case-Control Studies; Caveolin 1; Caveolin 2; Chromosomes; Human; Pair 7; Female; Genetic Predisposition to Disease; Genome; Genome-Wide Association Study; Genotype; Glaucoma; Open-Angle; Humans; Male; Middle Aged; Polymorphism; Single Nucleotide; Iceland
• Online Access: http://hdl.handle.net/2336/114009; https://doi.org/10.1038/ng.661

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.