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

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 S.C. Lam, Pancy O.S. Tam, Gudrun J. Gudmundsdottir, Laura Southgate, Kathryn P. Burdon, Maria Soffia Gottfredsdottir, Micheala A. Aldred, Paul Mitchell, David St ClairDavid 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 C.N. Chan, Wojciech S.S. 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

*Corresponding author for this work

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

Bibliographical note

Funding Information:
We thank all the participants whose contribution made this study possible, as well as their ophthalmologists. We also thank the personnel at deCODE recruitment center and core facilities for their hard work and enthusiasm. We would also like to acknowledge A. Hill (University Hospitals of Leicester National Health Service (NHS) Trust) for invaluable help with sample collection and the Wellcome Trust for funding (programme grant 062346/Z/00/Z and project grant 078751/Z/05/Z). The authors acknowledge financial support from the UK Department of Health via the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy’s and St. Thomas’ NHS Foundation Trust in partnership with King’s College London and King’s College Hospital NHS Foundation Trust. We also thank the following organizations for their financial support: Clifford Craig Medical Research Trust; Ophthalmic Research Institute of Australia; Pfizer Australia; Glaucoma Australia; American Health Assistance Foundation; the glaucoma research foundation and the Australian National Health and Medical Research Council (NHMRC); the International Glaucoma Association, UK and the Eire Glaucoma Society and Optegra UK Ltd. J.E.C. is supported in part by an NHMRC Practitioner Fellowship, and D.A.M. is a Pfizer Australia Research Fellow. We would also like to thank O. Wallerman, M. Jansson, L.I. Larsson and L. Tomic for their assistance and the Swedish Research Council for financial support. The authors acknowledge the funding and support of the following organizations: the US National Institutes of Health (NIH)/National Eye Institute grant 1RO1EY018246 and the NIH Center for Inherited Diseases Research (CIDR) (PI: T. Young); the Verto Institute, the American Health Assistance Foundation (AHAF) National Glaucoma Research and the Ellison Foundation for Aging Research; and the Southampton Wellcome Trust Clinical Research Facility. We thank D.R. Nyholt, G. Montgomery, S. Medland, S. Gordon, A. Henders, B. McEvoy, M.J. Wright, M.J. Campbell and A. Caracella for obtaining funding for and processing the Australian genotype data. S.M. is supported by an Australian NHMRC Career Development Award.


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