@article {303911,
	title = {Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.},
	journal = {Nat Genet},
	volume = {46},
	number = {10},
	year = {2014},
	month = {2014 Oct},
	pages = {1120-5},
	abstract = {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 {\texttimes} 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 {\texttimes} 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 {\texttimes} 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.},
	issn = {1546-1718},
	doi = {10.1038/ng.3079},
	author = {Gharahkhani, Puya and Burdon, Kathryn P and Fogarty, Rhys and Sharma, Shiwani and Hewitt, Alex W and Martin, Sarah and Law, Matthew H and Cremin, Katie and Bailey, Jessica N Cooke and Loomis, Stephanie J and Pasquale, Louis R and Haines, Jonathan L and Hauser, Michael A and Viswanathan, Ananth C and McGuffin, Peter and Topouzis, Fotis and Foster, Paul J and Graham, Stuart L and Casson, Robert J and Chehade, Mark and White, Andrew J and Zhou, Tiger and Souzeau, Emmanuelle and Landers, John and Fitzgerald, Jude T and Klebe, Sonja and Ruddle, Jonathan B and Goldberg, Ivan and Healey, Paul R and Wellcome Trust Case Control Consortium 2 and NEIGHBORHOOD Consortium and Mills, Richard A and Wang, Jie Jin and Montgomery, Grant W and Martin, Nicholas G and Radford-Smith, Graham and Whiteman, David C and Brown, Matthew A and Wiggs, Janey L and Mackey, David A and Mitchell, Paul and Macgregor, Stuart and Craig, Jamie E}
}
