Journal
NATURE GENETICS
Volume 46, Issue 10, Pages 1120-1125Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3079
Keywords
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Categories
Funding
- Royal Australian
- New Zealand College of Ophthalmology (RANZCO) Eye Foundation
- National Health and Medical Research Council (NHMRC) of Australia [535074, 1023911]
- NHMRC [1031362, 1037838, 1048037, 1009844, 1031920]
- Alcon Research Institute grant
- Allergan Unrestricted grant
- BrightFocus Foundation
- Ramaciotti Establishment Grant
- Queensland Cancer Fund
- NHMRC of Australia [199600, 552429, 241944, 339462, 389927, 389875, 389891, 389892, 389938, 443036, 442915, 442981, 496610, 496739, 552485, 552498]
- US National Cancer Institute [5 R01 CA 001833, R01 CA 136725]
- NHMRC Medical Genomics Grant
- US National Institutes of Health (NIH) Center for Inherited Research (CIDR), NIH/National Eye Institute (NEI) [1RO1EY018246]
- Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC), Cerylid Biosciences (Melbourne)
- NHMRC, Canberra Australia [974159, 211069, 457349, 512423, 475604, 529912]
- Centre for Clinical Research Excellence in Translational Clinical Research in Eye Diseases
- NHMRC Senior Research Fellowships [358702, 632909]
- Wellcome Trust, UK, Wellcome Trust Case Control Consortium 2 [085475B08Z, 08547508Z, 076113]
- Medical Research Council (MRC) [G0401527]
- Research Into Ageing [262]
- NIHR (UK) Biomedical Research Centre at Moorfields Eye Hospital and University College London Institute of Ophthalmology funds [BRC2_009]
- NEI [HG005259-01]
- NIH [HHSN268200782096C, EY015543, EY006827, HL73042, HL073389, EY13315, EY023646, CA87969]
- NEI through American Recovery and Reinvestment Act (ARRA) [3R01EY015872-05S1, 3R01EY019126-02S1]
- Harvard Glaucoma Center for Excellence
- Margolis Fund
- Glaucoma Research Foundation
- American Health Assistance Foundation
- Glaucoma Foundation
- Research to Prevent Blindness
- NIH GEI (Gene Environment Initiative) [U01HG04424, U01HG004728]
- GENEVA Coordinating Center [U01HG004446]
- Australian Research Council (ARC)
- NHMRC Fellowships
- Australian NHMRC Fellowships
- ARC
- NHMRC
- [EY022305]
- [CA49449]
- [CA55075]
- [EY009149]
- [HG004608]
- [EY008208]
- [EY015473]
- [EY012118]
- [EY015682]
- [EY011671]
- [EY09580]
- [EY013178]
- [RR015574]
- [EY015872]
- [EY010886]
- [EY009847]
- [EY014104]
- [EY011008]
- [EY144428]
- [EY144448]
- [EY18660]
- [T32 EY007157]
- [T32 EY21453-2]
- National Health and Medical Research Council of Australia [632909] Funding Source: NHMRC
- Medical Research Council [G0401527, MR/K006584/1, G1000143] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10114] Funding Source: researchfish
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Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 x 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 x 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 x 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
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