TY - JOUR
T1 - Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
AU - Thorleifsson, Gudmar
AU - Walters, G. Bragi
AU - Hewitt, Alex W.
AU - Masson, Gisli
AU - Helgason, Agnar
AU - Dewan, Andrew
AU - Sigurdsson, Asgeir
AU - Jonasdottir, Adalbjorg
AU - Gudjonsson, Sigurjon A.
AU - Magnusson, Kristinn P.
AU - Stefansson, Hreinn
AU - Lam, Dennis S.C.
AU - Tam, Pancy O.S.
AU - Gudmundsdottir, Gudrun J.
AU - Southgate, Laura
AU - Burdon, Kathryn P.
AU - Gottfredsdottir, Maria Soffia
AU - Aldred, Micheala A.
AU - Mitchell, Paul
AU - St Clair, David
AU - Collier, David A.
AU - Tang, Nelson
AU - Sveinsson, Orn
AU - MacGregor, Stuart
AU - Martin, Nicholas G.
AU - Cree, Angela J.
AU - Gibson, Jane
AU - MacLeod, Alex
AU - Jacob, Aby
AU - Ennis, Sarah
AU - Young, Terri L.
AU - Chan, Juliana C.N.
AU - Karwatowski, Wojciech S.S.
AU - Hammond, Christopher J.
AU - Thordarson, Kristjan
AU - Zhang, Mingzhi
AU - Wadelius, Claes
AU - Lotery, Andrew J.
AU - Trembath, Richard C.
AU - Pang, Chi Pui
AU - Hoh, Josephine
AU - Craig, Jamie E.
AU - Kong, Augustine
AU - MacKey, David A.
AU - Jonasson, Fridbert
AU - Thorsteinsdottir, Unnur
AU - Stefansson, Kari
N1 - 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.
PY - 2010/10/12
Y1 - 2010/10/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77957603164&partnerID=8YFLogxK
U2 - 10.1038/ng.661
DO - 10.1038/ng.661
M3 - Article
C2 - 20835238
AN - SCOPUS:77957603164
VL - 42
SP - 906
EP - 909
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 10
ER -