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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma


Gharahkhani, P and Burdon, KP and Fogarty, R and Sharma, S and Hewitt, AW and Martin, S and Law, MH and Cremin, K and Cooke Bailey, JN and Loomis, SJ and Pasquale, LR and Haines, JL and Hauser, MA and Viswanathan, AC and McGuffin, P and Topouzis, F and Foster, PJ and Graham, SL and Casson, RJ and Chehade, M and White, AJ and Zhou, T and Souzeau, E and Landers, J and Fitzgerald, JT and Klebe, S and Ruddle, JB and Goldberg, I and Healey, PR and Mills, RA and Wang, JJ and Montgomery, GW and Martin, NG and Radford-Smith, G and Whiteman, DC and Brown, MA and Wiggs, JL and Mackey, DA and Mitchell, P and MacGregor, S and Craig, JE, Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium, Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma, Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article]


Copyright Statement

Copyright 2014 Nature America

DOI: doi:10.1038/ng.3079


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 × 10-19), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10-10) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 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.

Item Details

Item Type:Refereed Article
Keywords:glaucoma, genetics, open-angle
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Gene mapping
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:94293
Year Published:2014
Web of Science® Times Cited:125
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-09-05
Last Modified:2020-12-13
Downloads:119 View Download Statistics

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