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

G Thorleifsson, G Walters, Alex Hewitt, Gisli Masson, A Helgason, A DeWan, A Sigurdsson, Adalbjorg Jonasdottir, Sigurjon Gudjonsson, K Magnusson, H Stefansson, D Lam, P Tam, G Gudmundsdottir, L Southgate, Kathryn Burdon, M Gottfredsdottir, Michaela Aldred, Paul Mitchell, David St ClairDavid Collier, Nelson Tang, Orn Sveinsson, Stuart Macgregor, Nicholas Martin, Angela Cree, Jane Gibson, Alex Macleod, Aby Jacob, Sarah Ennis, Terri Young, Juliana Chan, Wojciech Karwatowski, Christopher Hammond, Kristjan Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew Lotery, Richard Trembath, Chi Pui Pang, Josephine Hoh, Jamie Craig, Augustine Kong, David Mackey, Fridbert Jonasson, Unnur Thorsteinsdottir, Kari Stefansson

    Research output: Contribution to journalArticlepeer-review

    286 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)906-909
    Number of pages4
    JournalNature Genetics
    Issue number10
    Publication statusPublished - Oct 2010


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