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

312 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 - 12 Oct 2010


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